Linked Data
ClinVar Variation Id:
451341
dbSNP Id:
rs141098495
ExAC:
2:27669216 C / T
gnomAD v2:
2-27669216-C-T
gnomAD v3:
2-27446349-C-T
gnomAD v4:
2-27446349-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27446349C>T , CM000664.2:g.27446349C>T | GRCh38 |
| NC_000002.11:g.27669216C>T , CM000664.1:g.27669216C>T | GRCh37 |
| NC_000002.10:g.27522720C>T | NCBI36 |
| NG_034068.1:g.48463G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260570.8:c.4666G>A (IFT172) MANE Select | ENSP00000260570.3:p.Val1556Met | |
| ENST00000674594.1:n.1278G>A (IFT172) | ||
| ENST00000674701.1:c.*4179G>A (IFT172) | ENSP00000502275.1:n.*4179G>A | |
| ENST00000674824.1:c.*3114G>A (IFT172) | ENSP00000501824.1:n.*3114G>A | |
| ENST00000674932.1:c.*5112G>A (IFT172) | ENSP00000501967.1:n.*5112G>A | |
| ENST00000675410.1:c.*2655G>A (IFT172) | ENSP00000502030.1:n.*2655G>A | |
| ENST00000675690.1:c.4600G>A (IFT172) | ENSP00000502283.1:p.Val1534Met | |
| ENST00000676119.1:c.*3892G>A (IFT172) | ENSP00000501701.1:n.*3892G>A | |
| ENST00000260570.7:c.4666G>A (IFT172) | ENSP00000260570.3:p.Val1556Met | |
| ENST00000420854.1:c.238G>A (IFT172) | ENSP00000398633.1:p.Val80Met | |
| ENST00000452499.1:c.243C>T (KRTCAP3) | ENSP00000388115.1:n.243C>T | |
| ENST00000480892.1:n.69G>A (IFT172) | ||
| ENST00000507184.5:n.4947G>A (IFT172) | ||
| ENST00000509128.5:c.1084G>A (IFT172) | ||
| ENST00000543753.5:c.*54C>T (KRTCAP3) | ENSP00000442400.1:n.*54C>T | |
| NM_001168364.1:c.*54C>T (KRTCAP3) | NP_001161836.1:n.*54C>T | |
| NM_015662.2:c.4666G>A (IFT172) | NP_056477.1:p.Val1556Met | |
| XM_005264254.1:c.4600G>A (IFT172) | XP_005264311.1:p.Val1534Met | |
| XM_006711986.2:c.4603G>A (IFT172) | XP_006712049.1:p.Val1535Met | |
| XM_006711987.1:c.4666G>A (IFT172) | XP_006712050.1:p.Val1556Met | |
| XM_011532757.1:c.3985G>A (IFT172) | XP_011531059.1:p.Val1329Met | |
| XM_011532759.1:c.3106G>A (IFT172) | XP_011531061.1:p.Val1036Met | |
| XM_011532760.1:c.2731G>A (IFT172) | XP_011531062.1:p.Val911Met | |
| XM_006711986.3:c.4603G>A (IFT172) | XP_006712049.1:p.Val1535Met | |
| XM_011532757.2:c.3985G>A (IFT172) | XP_011531059.1:p.Val1329Met | |
| XM_011532759.2:c.3106G>A (IFT172) | XP_011531061.1:p.Val1036Met | |
| XM_011532760.2:c.2731G>A (IFT172) | XP_011531062.1:p.Val911Met | |
| XM_017003790.1:c.4537G>A (IFT172) | XP_016859279.1:p.Val1513Met | |
| XM_017003791.1:c.3985G>A (IFT172) | XP_016859280.1:p.Val1329Met | |
| XM_017003793.1:c.2803G>A (IFT172) | XP_016859282.1:p.Val935Met | |
| XM_017003794.1:c.2803G>A (IFT172) | XP_016859283.1:p.Val935Met | |
| XM_017003795.1:c.2599G>A (IFT172) | XP_016859284.1:p.Val867Met | |
| NM_015662.3:c.4666G>A (IFT172) MANE Select | NP_056477.1:p.Val1556Met | |
| NM_001168364.2:c.*54C>T (KRTCAP3) | NP_001161836.1:n.*54C>T |