Canonical Allele Identifier: CA6389921

Gene: CACNA1C CACNA1C-AS1

Linked Data

• ClinVar Variation Id: 279723
• ClinVar RCV Id: RCV002347983 ; RCV002487172
• dbSNP Id: rs542914369
• ExAC: 12:2794999 G / C
• gnomAD v2: 12-2794999-G-C
• gnomAD v3: 12-2685833-G-C
• gnomAD v4: 12-2685833-G-C
• MyVariant Identifiers: chr12:g.2794999G>C (hg19) ; chr12:g.2685833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.2685833G>C , CM000674.2:g.2685833G>C	GRCh38
NC_000012.11:g.2794999G>C , CM000674.1:g.2794999G>C	GRCh37
NC_000012.10:g.2665260G>C	NCBI36
NG_008801.2:g.720048G>C , LRG_334:g.720048G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000335762.10:c.5746G>C (CACNA1C)	ENSP00000336982.5:p.Ala1916Pro
ENST00000399617.6:c.5776G>C (CACNA1C)	ENSP00000382526.1:p.Ala1926Pro
ENST00000399634.6:c.5851G>C (CACNA1C)	ENSP00000382542.2:p.Ala1951Pro
ENST00000406454.8:c.5884G>C (CACNA1C)	ENSP00000385896.3:p.Ala1962Pro
ENST00000682336.1:c.5713G>C (CACNA1C)	ENSP00000507898.1:p.Ala1905Pro
ENST00000682462.1:c.5761G>C (CACNA1C)	ENSP00000507105.1:p.Ala1921Pro
ENST00000682544.1:c.6010G>C (CACNA1C)	ENSP00000507184.1:p.Ala2004Pro
ENST00000682686.1:c.5638G>C (CACNA1C)	ENSP00000507309.1:p.Ala1880Pro
ENST00000682835.1:c.5671G>C (CACNA1C)	ENSP00000507282.1:p.Ala1891Pro
ENST00000683482.1:c.5662G>C (CACNA1C)	ENSP00000507169.1:p.Ala1888Pro
ENST00000683781.1:c.5761G>C (CACNA1C)	ENSP00000507434.1:p.Ala1921Pro
ENST00000683824.1:c.5836G>C (CACNA1C)	ENSP00000507867.1:p.Ala1946Pro
ENST00000683840.1:c.5761G>C (CACNA1C)	ENSP00000507612.1:p.Ala1921Pro
ENST00000683956.1:c.5761G>C (CACNA1C)	ENSP00000506882.1:p.Ala1921Pro
ENST00000684233.1:n.796G>C (CACNA1C)
ENST00000684467.1:n.2174G>C (CACNA1C)
ENST00000684752.1:n.801G>C (CACNA1C)
ENST00000327702.12:c.5776G>C (CACNA1C)	ENSP00000329877.7:p.Ala1926Pro
ENST00000347598.9:c.5815G>C (CACNA1C)	ENSP00000266376.6:p.Ala1939Pro
ENST00000399603.6:c.5671G>C (CACNA1C) MANE Plus Clinical	ENSP00000382512.1:p.Ala1891Pro
ENST00000399641.6:c.5671G>C (CACNA1C)	ENSP00000382549.1:p.Ala1891Pro
ENST00000399655.6:c.5671G>C (CACNA1C) MANE Select	ENSP00000382563.1:p.Ala1891Pro
ENST00000327702.11:c.5776G>C (CACNA1C)	ENSP00000329877.7:p.Ala1926Pro
ENST00000335762.9:c.5746G>C (CACNA1C)	ENSP00000336982.5:p.Ala1916Pro
ENST00000344100.7:c.5794G>C (CACNA1C)	ENSP00000341092.3:p.Ala1932Pro
ENST00000347598.8:c.5815G>C (CACNA1C)	ENSP00000266376.6:p.Ala1939Pro
ENST00000399591.5:c.5695G>C (CACNA1C)	ENSP00000382500.1:p.Ala1899Pro
ENST00000399595.5:c.5695G>C (CACNA1C)	ENSP00000382504.1:p.Ala1899Pro
ENST00000399597.5:c.5671G>C (CACNA1C)	ENSP00000382506.1:p.Ala1891Pro
ENST00000399601.5:c.5671G>C (CACNA1C)	ENSP00000382510.1:p.Ala1891Pro
ENST00000399603.5:c.5671G>C (CACNA1C)	ENSP00000382512.1:p.Ala1891Pro
ENST00000399606.5:c.5731G>C (CACNA1C)	ENSP00000382515.1:p.Ala1911Pro
ENST00000399617.5:c.5776G>C (CACNA1C)	ENSP00000382526.1:p.Ala1926Pro
ENST00000399621.5:c.5728G>C (CACNA1C)	ENSP00000382530.1:p.Ala1910Pro
ENST00000399629.5:c.5722G>C (CACNA1C)	ENSP00000382537.1:p.Ala1908Pro
ENST00000399634.5:c.5884G>C (CACNA1C)	ENSP00000382542.1:p.Ala1962Pro
ENST00000399637.5:c.5728G>C (CACNA1C)	ENSP00000382546.1:p.Ala1910Pro
ENST00000399638.5:c.5755G>C (CACNA1C)	ENSP00000382547.1:p.Ala1919Pro
ENST00000399641.5:c.5671G>C (CACNA1C)	ENSP00000382549.1:p.Ala1891Pro
ENST00000399644.5:c.5671G>C (CACNA1C)	ENSP00000382552.1:p.Ala1891Pro
ENST00000399649.5:c.5689G>C (CACNA1C)	ENSP00000382557.1:p.Ala1897Pro
ENST00000399655.5:c.5671G>C (CACNA1C)	ENSP00000382563.1:p.Ala1891Pro
ENST00000402845.7:c.5728G>C (CACNA1C)	ENSP00000385724.3:p.Ala1910Pro
ENST00000406454.7:c.5884G>C (CACNA1C)	ENSP00000385896.3:p.Ala1962Pro
ENST00000613940.4:c.5299G>C (CACNA1C)	ENSP00000483335.1:p.Ala1767Pro
ENST00000615303.4:c.5443G>C (CACNA1C)	ENSP00000480922.1:p.Ala1815Pro
ENST00000615400.4:c.5338G>C (CACNA1C)	ENSP00000480292.1:p.Ala1780Pro
ENST00000616390.1:c.1744G>C (CACNA1C)	ENSP00000482910.1:p.Ala582Pro
ENST00000620878.4:c.5374G>C (CACNA1C)	ENSP00000479029.1:p.Ala1792Pro
ENST00000621625.4:c.5299G>C (CACNA1C)	ENSP00000484796.1:p.Ala1767Pro
NM_000719.6:c.5671G>C , LRG_334t1:c.5671G>C (CACNA1C)	NP_000710.5:p.Ala1891Pro
NM_001129827.1:c.5815G>C , LRG_334t2:c.5815G>C (CACNA1C)	NP_001123299.1:p.Ala1939Pro
NM_001129829.1:c.5794G>C (CACNA1C)	NP_001123301.1:p.Ala1932Pro
NM_001129830.2:c.5776G>C (CACNA1C)	NP_001123302.2:p.Ala1926Pro
NM_001129831.1:c.5755G>C (CACNA1C)	NP_001123303.1:p.Ala1919Pro
NM_001129832.1:c.5731G>C (CACNA1C)	NP_001123304.1:p.Ala1911Pro
NM_001129833.1:c.5728G>C (CACNA1C)	NP_001123305.1:p.Ala1910Pro
NM_001129834.1:c.5728G>C (CACNA1C)	NP_001123306.1:p.Ala1910Pro
NM_001129835.1:c.5728G>C (CACNA1C)	NP_001123307.1:p.Ala1910Pro
NM_001129836.1:c.5722G>C (CACNA1C)	NP_001123308.1:p.Ala1908Pro
NM_001129837.1:c.5695G>C (CACNA1C)	NP_001123309.1:p.Ala1899Pro
NM_001129838.1:c.5695G>C (CACNA1C)	NP_001123310.1:p.Ala1899Pro
NM_001129839.1:c.5689G>C (CACNA1C)	NP_001123311.1:p.Ala1897Pro
NM_001129840.1:c.5671G>C , LRG_334t4:c.5671G>C (CACNA1C)	NP_001123312.1:p.Ala1891Pro
NM_001129841.1:c.5671G>C (CACNA1C)	NP_001123313.1:p.Ala1891Pro
NM_001129842.1:c.5671G>C (CACNA1C)	NP_001123314.1:p.Ala1891Pro
NM_001129843.1:c.5671G>C (CACNA1C)	NP_001123315.1:p.Ala1891Pro
NM_001129844.1:c.5662G>C (CACNA1C)	NP_001123316.1:p.Ala1888Pro
NM_001129846.1:c.5638G>C (CACNA1C)	NP_001123318.1:p.Ala1880Pro
NM_001167623.1:c.5671G>C (CACNA1C)	NP_001161095.1:p.Ala1891Pro
NM_001167624.2:c.5776G>C (CACNA1C)	NP_001161096.2:p.Ala1926Pro
NM_001167625.1:c.5851G>C (CACNA1C)	NP_001161097.1:p.Ala1951Pro
NM_199460.3:c.5920G>C (CACNA1C)	NP_955630.3:p.Ala1974Pro
NR_045725.1:n.333+4307C>G (CACNA1C-AS1)
XM_006719017.1:c.5761G>C (CACNA1C)	XP_006719080.1:p.Ala1921Pro
XM_011521017.1:c.5290G>C (CACNA1C)	XP_011519319.1:p.Ala1764Pro
XM_011521018.1:c.4735G>C (CACNA1C)	XP_011519320.1:p.Ala1579Pro
XM_011521019.1:c.2845G>C (CACNA1C)	XP_011519321.1:p.Ala949Pro
XM_011521020.1:c.5836G>C (CACNA1C)	XP_011519322.1:p.Ala1946Pro
XM_011521021.1:c.5989G>C (CACNA1C)	XP_011519323.1:p.Ala1997Pro
XM_011521022.1:c.5989G>C (CACNA1C)	XP_011519324.1:p.Ala1997Pro
XM_011521023.1:c.5746G>C (CACNA1C)	XP_011519325.1:p.Ala1916Pro
XM_006719017.2:c.5761G>C (CACNA1C)	XP_006719080.1:p.Ala1921Pro
XM_011521020.2:c.5836G>C (CACNA1C)	XP_011519322.1:p.Ala1946Pro
XM_011521023.3:c.5746G>C (CACNA1C)	XP_011519325.1:p.Ala1916Pro
XM_017019926.2:c.6493G>C (CACNA1C)	XP_016875415.1:p.Ala2165Pro
XM_017019927.2:c.6388G>C (CACNA1C)	XP_016875416.1:p.Ala2130Pro
XM_017019928.2:c.6175G>C (CACNA1C)	XP_016875417.1:p.Ala2059Pro
XM_017019929.2:c.6118G>C (CACNA1C)	XP_016875418.1:p.Ala2040Pro
XM_017019930.2:c.6118G>C (CACNA1C)	XP_016875419.1:p.Ala2040Pro
XM_017019931.2:c.6034G>C (CACNA1C)	XP_016875420.1:p.Ala2012Pro
XM_017019932.2:c.6019G>C (CACNA1C)	XP_016875421.1:p.Ala2007Pro
XM_017019933.2:c.5923G>C (CACNA1C)	XP_016875422.1:p.Ala1975Pro
XM_017019934.2:c.5914G>C (CACNA1C)	XP_016875423.1:p.Ala1972Pro
XM_017019935.2:c.5914G>C (CACNA1C)	XP_016875424.1:p.Ala1972Pro
XM_017019936.2:c.5896G>C (CACNA1C)	XP_016875425.1:p.Ala1966Pro
XM_017019937.2:c.5896G>C (CACNA1C)	XP_016875426.1:p.Ala1966Pro
XM_017019938.2:c.5896G>C (CACNA1C)	XP_016875427.1:p.Ala1966Pro
XM_017019939.2:c.5890G>C (CACNA1C)	XP_016875428.1:p.Ala1964Pro
XM_017019940.2:c.5863G>C (CACNA1C)	XP_016875429.1:p.Ala1955Pro
XM_017019941.2:c.5857G>C (CACNA1C)	XP_016875430.1:p.Ala1953Pro
XM_017019942.2:c.5839G>C (CACNA1C)	XP_016875431.1:p.Ala1947Pro
XM_017019943.2:c.5839G>C (CACNA1C)	XP_016875432.1:p.Ala1947Pro
XM_017019944.2:c.5839G>C (CACNA1C)	XP_016875433.1:p.Ala1947Pro
XM_017019945.2:c.5839G>C (CACNA1C)	XP_016875434.1:p.Ala1947Pro
XM_017019946.2:c.5839G>C (CACNA1C)	XP_016875435.1:p.Ala1947Pro
XM_017019947.2:c.5839G>C (CACNA1C)	XP_016875436.1:p.Ala1947Pro
XM_017019948.2:c.5839G>C (CACNA1C)	XP_016875437.1:p.Ala1947Pro
XM_017019949.2:c.5839G>C (CACNA1C)	XP_016875438.1:p.Ala1947Pro
XM_017019950.2:c.5833G>C (CACNA1C)	XP_016875439.1:p.Ala1945Pro
XM_017019951.2:c.5830G>C (CACNA1C)	XP_016875440.1:p.Ala1944Pro
XM_017019952.2:c.5806G>C (CACNA1C)	XP_016875441.1:p.Ala1936Pro
XM_017019953.1:c.5761G>C (CACNA1C)	XP_016875442.1:p.Ala1921Pro
XM_017019954.1:c.5761G>C (CACNA1C)	XP_016875443.1:p.Ala1921Pro
XM_017019955.2:c.5914G>C (CACNA1C)	XP_016875444.1:p.Ala1972Pro
NM_000719.7:c.5671G>C (CACNA1C) MANE Select	NP_000710.5:p.Ala1891Pro
NM_001129827.2:c.5815G>C (CACNA1C)	NP_001123299.1:p.Ala1939Pro
NM_001129830.3:c.5776G>C (CACNA1C)	NP_001123302.2:p.Ala1926Pro
NM_001129840.2:c.5671G>C (CACNA1C)	NP_001123312.1:p.Ala1891Pro
NM_001167623.2:c.5671G>C (CACNA1C) MANE Plus Clinical	NP_001161095.1:p.Ala1891Pro
NM_001129829.2:c.5794G>C (CACNA1C)	NP_001123301.1:p.Ala1932Pro
NM_001129831.2:c.5755G>C (CACNA1C)	NP_001123303.1:p.Ala1919Pro
NM_001129832.2:c.5731G>C (CACNA1C)	NP_001123304.1:p.Ala1911Pro
NM_001129833.2:c.5728G>C (CACNA1C)	NP_001123305.1:p.Ala1910Pro
NM_001129834.2:c.5728G>C (CACNA1C)	NP_001123306.1:p.Ala1910Pro
NM_001129835.2:c.5728G>C (CACNA1C)	NP_001123307.1:p.Ala1910Pro
NM_001129836.2:c.5722G>C (CACNA1C)	NP_001123308.1:p.Ala1908Pro
NM_001129837.2:c.5695G>C (CACNA1C)	NP_001123309.1:p.Ala1899Pro
NM_001129838.2:c.5695G>C (CACNA1C)	NP_001123310.1:p.Ala1899Pro
NM_001129839.2:c.5689G>C (CACNA1C)	NP_001123311.1:p.Ala1897Pro
NM_001129841.2:c.5671G>C (CACNA1C)	NP_001123313.1:p.Ala1891Pro
NM_001129842.2:c.5671G>C (CACNA1C)	NP_001123314.1:p.Ala1891Pro
NM_001129843.2:c.5671G>C (CACNA1C)	NP_001123315.1:p.Ala1891Pro
NM_001129844.2:c.5662G>C (CACNA1C)	NP_001123316.1:p.Ala1888Pro
NM_001129846.2:c.5638G>C (CACNA1C)	NP_001123318.1:p.Ala1880Pro
NM_001167624.3:c.5776G>C (CACNA1C)	NP_001161096.2:p.Ala1926Pro
NM_001167625.2:c.5851G>C (CACNA1C)	NP_001161097.1:p.Ala1951Pro
NM_199460.4:c.5920G>C (CACNA1C)	NP_955630.3:p.Ala1974Pro