Revel Score:
ENST00000335762
0.039
ENST00000399655 (MANE Select)
0.039
ENST00000399644
0.039
ENST00000399638
0.039
ENST00000399597
0.039
ENST00000399621
0.039
ENST00000399637
0.039
ENST00000399591
0.039
ENST00000399641
0.039
ENST00000347598
0.039
ENST00000399606
0.039
ENST00000399601
0.039
ENST00000344100
0.039
ENST00000399629
0.039
ENST00000327702
0.039
ENST00000399649
0.039
ENST00000402845
0.039
ENST00000399603 (MANE Plus Clinical)
0.039
ENST00000399634
0.039
ENST00000399617
0.039
ENST00000406454
0.039
ENST00000399595
0.039
ENST00000322367
0.039
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000689 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.2688693G>T , CM000674.2:g.2688693G>T | GRCh38 |
| NC_000012.11:g.2797859G>T , CM000674.1:g.2797859G>T | GRCh37 |
| NC_000012.10:g.2668120G>T | NCBI36 |
| NG_008801.2:g.722908G>T , LRG_334:g.722908G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000335762.10:c.6106G>T (CACNA1C) | ENSP00000336982.5:p.Val2036Phe | |
| ENST00000399617.6:c.6136G>T (CACNA1C) | ENSP00000382526.1:p.Val2046Phe | |
| ENST00000399634.6:c.6211G>T (CACNA1C) | ENSP00000382542.2:p.Val2071Phe | |
| ENST00000406454.8:c.6244G>T (CACNA1C) | ENSP00000385896.3:p.Val2082Phe | |
| ENST00000682336.1:c.6073G>T (CACNA1C) | ENSP00000507898.1:p.Val2025Phe | |
| ENST00000682462.1:c.6121G>T (CACNA1C) | ENSP00000507105.1:p.Val2041Phe | |
| ENST00000682544.1:c.6370G>T (CACNA1C) | ENSP00000507184.1:p.Val2124Phe | |
| ENST00000682686.1:c.5998G>T (CACNA1C) | ENSP00000507309.1:p.Val2000Phe | |
| ENST00000682835.1:c.6031G>T (CACNA1C) | ENSP00000507282.1:p.Val2011Phe | |
| ENST00000683482.1:c.6022G>T (CACNA1C) | ENSP00000507169.1:p.Val2008Phe | |
| ENST00000683781.1:c.6121G>T (CACNA1C) | ENSP00000507434.1:p.Val2041Phe | |
| ENST00000683824.1:c.6196G>T (CACNA1C) | ENSP00000507867.1:p.Val2066Phe | |
| ENST00000683840.1:c.6121G>T (CACNA1C) | ENSP00000507612.1:p.Val2041Phe | |
| ENST00000683956.1:c.6121G>T (CACNA1C) | ENSP00000506882.1:p.Val2041Phe | |
| ENST00000684467.1:n.2534G>T (CACNA1C) | ||
| ENST00000327702.12:c.6136G>T (CACNA1C) | ENSP00000329877.7:p.Val2046Phe | |
| ENST00000347598.9:c.6175G>T (CACNA1C) | ENSP00000266376.6:p.Val2059Phe | |
| ENST00000399603.6:c.6031G>T (CACNA1C) MANE Plus Clinical | ENSP00000382512.1:p.Val2011Phe | |
| ENST00000399641.6:c.6031G>T (CACNA1C) | ENSP00000382549.1:p.Val2011Phe | |
| ENST00000399655.6:c.6031G>T (CACNA1C) MANE Select | ENSP00000382563.1:p.Val2011Phe | |
| ENST00000327702.11:c.6136G>T (CACNA1C) | ENSP00000329877.7:p.Val2046Phe | |
| ENST00000335762.9:c.6106G>T (CACNA1C) | ENSP00000336982.5:p.Val2036Phe | |
| ENST00000344100.7:c.6154G>T (CACNA1C) | ENSP00000341092.3:p.Val2052Phe | |
| ENST00000347598.8:c.6175G>T (CACNA1C) | ENSP00000266376.6:p.Val2059Phe | |
| ENST00000399591.5:c.6055G>T (CACNA1C) | ENSP00000382500.1:p.Val2019Phe | |
| ENST00000399595.5:c.6055G>T (CACNA1C) | ENSP00000382504.1:p.Val2019Phe | |
| ENST00000399597.5:c.6031G>T (CACNA1C) | ENSP00000382506.1:p.Val2011Phe | |
| ENST00000399601.5:c.6031G>T (CACNA1C) | ENSP00000382510.1:p.Val2011Phe | |
| ENST00000399603.5:c.6031G>T (CACNA1C) | ENSP00000382512.1:p.Val2011Phe | |
| ENST00000399606.5:c.6091G>T (CACNA1C) | ENSP00000382515.1:p.Val2031Phe | |
| ENST00000399617.5:c.6136G>T (CACNA1C) | ENSP00000382526.1:p.Val2046Phe | |
| ENST00000399621.5:c.6088G>T (CACNA1C) | ENSP00000382530.1:p.Val2030Phe | |
| ENST00000399629.5:c.6082G>T (CACNA1C) | ENSP00000382537.1:p.Val2028Phe | |
| ENST00000399634.5:c.6244G>T (CACNA1C) | ENSP00000382542.1:p.Val2082Phe | |
| ENST00000399637.5:c.6088G>T (CACNA1C) | ENSP00000382546.1:p.Val2030Phe | |
| ENST00000399638.5:c.6115G>T (CACNA1C) | ENSP00000382547.1:p.Val2039Phe | |
| ENST00000399641.5:c.6031G>T (CACNA1C) | ENSP00000382549.1:p.Val2011Phe | |
| ENST00000399644.5:c.6031G>T (CACNA1C) | ENSP00000382552.1:p.Val2011Phe | |
| ENST00000399649.5:c.6049G>T (CACNA1C) | ENSP00000382557.1:p.Val2017Phe | |
| ENST00000399655.5:c.6031G>T (CACNA1C) | ENSP00000382563.1:p.Val2011Phe | |
| ENST00000402845.7:c.6088G>T (CACNA1C) | ENSP00000385724.3:p.Val2030Phe | |
| ENST00000406454.7:c.6244G>T (CACNA1C) | ENSP00000385896.3:p.Val2082Phe | |
| ENST00000613940.4:c.5659G>T (CACNA1C) | ENSP00000483335.1:p.Val1887Phe | |
| ENST00000615303.4:c.5803G>T (CACNA1C) | ENSP00000480922.1:p.Val1935Phe | |
| ENST00000615400.4:c.5698G>T (CACNA1C) | ENSP00000480292.1:p.Val1900Phe | |
| ENST00000616390.1:c.2104G>T (CACNA1C) | ENSP00000482910.1:p.Val702Phe | |
| ENST00000620878.4:c.5734G>T (CACNA1C) | ENSP00000479029.1:p.Val1912Phe | |
| ENST00000621625.4:c.5659G>T (CACNA1C) | ENSP00000484796.1:p.Val1887Phe | |
| NM_000719.6:c.6031G>T , LRG_334t1:c.6031G>T (CACNA1C) | NP_000710.5:p.Val2011Phe | |
| NM_001129827.1:c.6175G>T , LRG_334t2:c.6175G>T (CACNA1C) | NP_001123299.1:p.Val2059Phe | |
| NM_001129829.1:c.6154G>T (CACNA1C) | NP_001123301.1:p.Val2052Phe | |
| NM_001129830.2:c.6136G>T (CACNA1C) | NP_001123302.2:p.Val2046Phe | |
| NM_001129831.1:c.6115G>T (CACNA1C) | NP_001123303.1:p.Val2039Phe | |
| NM_001129832.1:c.6091G>T (CACNA1C) | NP_001123304.1:p.Val2031Phe | |
| NM_001129833.1:c.6088G>T (CACNA1C) | NP_001123305.1:p.Val2030Phe | |
| NM_001129834.1:c.6088G>T (CACNA1C) | NP_001123306.1:p.Val2030Phe | |
| NM_001129835.1:c.6088G>T (CACNA1C) | NP_001123307.1:p.Val2030Phe | |
| NM_001129836.1:c.6082G>T (CACNA1C) | NP_001123308.1:p.Val2028Phe | |
| NM_001129837.1:c.6055G>T (CACNA1C) | NP_001123309.1:p.Val2019Phe | |
| NM_001129838.1:c.6055G>T (CACNA1C) | NP_001123310.1:p.Val2019Phe | |
| NM_001129839.1:c.6049G>T (CACNA1C) | NP_001123311.1:p.Val2017Phe | |
| NM_001129840.1:c.6031G>T , LRG_334t4:c.6031G>T (CACNA1C) | NP_001123312.1:p.Val2011Phe | |
| NM_001129841.1:c.6031G>T (CACNA1C) | NP_001123313.1:p.Val2011Phe | |
| NM_001129842.1:c.6031G>T (CACNA1C) | NP_001123314.1:p.Val2011Phe | |
| NM_001129843.1:c.6031G>T (CACNA1C) | NP_001123315.1:p.Val2011Phe | |
| NM_001129844.1:c.6022G>T (CACNA1C) | NP_001123316.1:p.Val2008Phe | |
| NM_001129846.1:c.5998G>T (CACNA1C) | NP_001123318.1:p.Val2000Phe | |
| NM_001167623.1:c.6031G>T (CACNA1C) | NP_001161095.1:p.Val2011Phe | |
| NM_001167624.2:c.6136G>T (CACNA1C) | NP_001161096.2:p.Val2046Phe | |
| NM_001167625.1:c.6211G>T (CACNA1C) | NP_001161097.1:p.Val2071Phe | |
| NM_199460.3:c.6280G>T (CACNA1C) | NP_955630.3:p.Val2094Phe | |
| NR_045725.1:n.333+1447C>A (CACNA1C-AS1) | ||
| XM_006719017.1:c.6121G>T (CACNA1C) | XP_006719080.1:p.Val2041Phe | |
| XM_011521017.1:c.5650G>T (CACNA1C) | XP_011519319.1:p.Val1884Phe | |
| XM_011521018.1:c.5095G>T (CACNA1C) | XP_011519320.1:p.Val1699Phe | |
| XM_011521019.1:c.3205G>T (CACNA1C) | XP_011519321.1:p.Val1069Phe | |
| XM_011521020.1:c.6196G>T (CACNA1C) | XP_011519322.1:p.Val2066Phe | |
| XM_011521021.1:c.6349G>T (CACNA1C) | XP_011519323.1:p.Val2117Phe | |
| XM_011521022.1:c.6349G>T (CACNA1C) | XP_011519324.1:p.Val2117Phe | |
| XM_011521023.1:c.6106G>T (CACNA1C) | XP_011519325.1:p.Val2036Phe | |
| XM_006719017.2:c.6121G>T (CACNA1C) | XP_006719080.1:p.Val2041Phe | |
| XM_011521020.2:c.6196G>T (CACNA1C) | XP_011519322.1:p.Val2066Phe | |
| XM_011521023.3:c.6106G>T (CACNA1C) | XP_011519325.1:p.Val2036Phe | |
| XM_017019926.2:c.6853G>T (CACNA1C) | XP_016875415.1:p.Val2285Phe | |
| XM_017019927.2:c.6748G>T (CACNA1C) | XP_016875416.1:p.Val2250Phe | |
| XM_017019928.2:c.6535G>T (CACNA1C) | XP_016875417.1:p.Val2179Phe | |
| XM_017019929.2:c.6478G>T (CACNA1C) | XP_016875418.1:p.Val2160Phe | |
| XM_017019930.2:c.6478G>T (CACNA1C) | XP_016875419.1:p.Val2160Phe | |
| XM_017019931.2:c.6394G>T (CACNA1C) | XP_016875420.1:p.Val2132Phe | |
| XM_017019932.2:c.6379G>T (CACNA1C) | XP_016875421.1:p.Val2127Phe | |
| XM_017019933.2:c.6283G>T (CACNA1C) | XP_016875422.1:p.Val2095Phe | |
| XM_017019934.2:c.6274G>T (CACNA1C) | XP_016875423.1:p.Val2092Phe | |
| XM_017019935.2:c.6274G>T (CACNA1C) | XP_016875424.1:p.Val2092Phe | |
| XM_017019936.2:c.6256G>T (CACNA1C) | XP_016875425.1:p.Val2086Phe | |
| XM_017019937.2:c.6256G>T (CACNA1C) | XP_016875426.1:p.Val2086Phe | |
| XM_017019938.2:c.6256G>T (CACNA1C) | XP_016875427.1:p.Val2086Phe | |
| XM_017019939.2:c.6250G>T (CACNA1C) | XP_016875428.1:p.Val2084Phe | |
| XM_017019940.2:c.6223G>T (CACNA1C) | XP_016875429.1:p.Val2075Phe | |
| XM_017019941.2:c.6217G>T (CACNA1C) | XP_016875430.1:p.Val2073Phe | |
| XM_017019942.2:c.6199G>T (CACNA1C) | XP_016875431.1:p.Val2067Phe | |
| XM_017019943.2:c.6199G>T (CACNA1C) | XP_016875432.1:p.Val2067Phe | |
| XM_017019944.2:c.6199G>T (CACNA1C) | XP_016875433.1:p.Val2067Phe | |
| XM_017019945.2:c.6199G>T (CACNA1C) | XP_016875434.1:p.Val2067Phe | |
| XM_017019946.2:c.6199G>T (CACNA1C) | XP_016875435.1:p.Val2067Phe | |
| XM_017019947.2:c.6199G>T (CACNA1C) | XP_016875436.1:p.Val2067Phe | |
| XM_017019948.2:c.6199G>T (CACNA1C) | XP_016875437.1:p.Val2067Phe | |
| XM_017019949.2:c.6199G>T (CACNA1C) | XP_016875438.1:p.Val2067Phe | |
| XM_017019950.2:c.6193G>T (CACNA1C) | XP_016875439.1:p.Val2065Phe | |
| XM_017019951.2:c.6190G>T (CACNA1C) | XP_016875440.1:p.Val2064Phe | |
| XM_017019952.2:c.6166G>T (CACNA1C) | XP_016875441.1:p.Val2056Phe | |
| XM_017019953.1:c.6121G>T (CACNA1C) | XP_016875442.1:p.Val2041Phe | |
| XM_017019954.1:c.6121G>T (CACNA1C) | XP_016875443.1:p.Val2041Phe | |
| XM_017019955.2:c.6274G>T (CACNA1C) | XP_016875444.1:p.Val2092Phe | |
| NM_000719.7:c.6031G>T (CACNA1C) MANE Select | NP_000710.5:p.Val2011Phe | |
| NM_001129827.2:c.6175G>T (CACNA1C) | NP_001123299.1:p.Val2059Phe | |
| NM_001129830.3:c.6136G>T (CACNA1C) | NP_001123302.2:p.Val2046Phe | |
| NM_001129840.2:c.6031G>T (CACNA1C) | NP_001123312.1:p.Val2011Phe | |
| NM_001167623.2:c.6031G>T (CACNA1C) MANE Plus Clinical | NP_001161095.1:p.Val2011Phe | |
| NM_001129829.2:c.6154G>T (CACNA1C) | NP_001123301.1:p.Val2052Phe | |
| NM_001129831.2:c.6115G>T (CACNA1C) | NP_001123303.1:p.Val2039Phe | |
| NM_001129832.2:c.6091G>T (CACNA1C) | NP_001123304.1:p.Val2031Phe | |
| NM_001129833.2:c.6088G>T (CACNA1C) | NP_001123305.1:p.Val2030Phe | |
| NM_001129834.2:c.6088G>T (CACNA1C) | NP_001123306.1:p.Val2030Phe | |
| NM_001129835.2:c.6088G>T (CACNA1C) | NP_001123307.1:p.Val2030Phe | |
| NM_001129836.2:c.6082G>T (CACNA1C) | NP_001123308.1:p.Val2028Phe | |
| NM_001129837.2:c.6055G>T (CACNA1C) | NP_001123309.1:p.Val2019Phe | |
| NM_001129838.2:c.6055G>T (CACNA1C) | NP_001123310.1:p.Val2019Phe | |
| NM_001129839.2:c.6049G>T (CACNA1C) | NP_001123311.1:p.Val2017Phe | |
| NM_001129841.2:c.6031G>T (CACNA1C) | NP_001123313.1:p.Val2011Phe | |
| NM_001129842.2:c.6031G>T (CACNA1C) | NP_001123314.1:p.Val2011Phe | |
| NM_001129843.2:c.6031G>T (CACNA1C) | NP_001123315.1:p.Val2011Phe | |
| NM_001129844.2:c.6022G>T (CACNA1C) | NP_001123316.1:p.Val2008Phe | |
| NM_001129846.2:c.5998G>T (CACNA1C) | NP_001123318.1:p.Val2000Phe | |
| NM_001167624.3:c.6136G>T (CACNA1C) | NP_001161096.2:p.Val2046Phe | |
| NM_001167625.2:c.6211G>T (CACNA1C) | NP_001161097.1:p.Val2071Phe | |
| NM_199460.4:c.6280G>T (CACNA1C) | NP_955630.3:p.Val2094Phe |