Linked Data
ClinVar Variation Id:
303296
ClinVar RCV Id:
RCV000301826
dbSNP Id:
rs201178398
ExAC:
11:124789756 G / A
gnomAD v2:
11-124789756-G-A
gnomAD v3:
11-124919860-G-A
gnomAD v4:
11-124919860-G-A
COSMIC:
COSM1733036
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124919860G>A , CM000673.2:g.124919860G>A | GRCh38 |
| NC_000011.9:g.124789756G>A , CM000673.1:g.124789756G>A | GRCh37 |
| NC_000011.8:g.124294966G>A | NCBI36 |
| NG_029603.1:g.21553C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000408930.7:c.110G>A (HEPN1) MANE Select | ENSP00000386143.4:p.Trp37Ter | |
| ENST00000703807.1:c.*1278C>T (HEPACAM) | ENSP00000515485.1:n.*1278C>T | |
| ENST00000298251.5:c.*1278C>T (HEPACAM) MANE Select | ENSP00000298251.4:n.*1278C>T | |
| ENST00000298251.4:c.*1278C>T (HEPACAM) | ENSP00000298251.4:n.*1278C>T | |
| ENST00000408930.6:c.110G>A (HEPN1) | ENSP00000386143.4:p.Trp37Ter | |
| NM_001037558.2:c.110G>A (HEPN1) | NP_001032647.2:p.Trp37Ter | |
| NM_152722.4:c.*1278C>T (HEPACAM) | NP_689935.2:n.*1278C>T | |
| XM_005271449.1:c.*1278C>T (HEPACAM) | XP_005271506.1:n.*1278C>T | |
| XM_006718786.1:c.*1278C>T (HEPACAM) | XP_006718849.1:n.*1278C>T | |
| XM_011542669.1:c.*1278C>T (HEPACAM) | XP_011540971.1:n.*1278C>T | |
| XM_005271449.2:c.*1278C>T (HEPACAM) | XP_005271506.1:n.*1278C>T | |
| XM_017017361.1:c.*1278C>T (HEPACAM) | XP_016872850.1:n.*1278C>T | |
| XR_001748429.2:n.325-23540G>A | ||
| NM_152722.5:c.*1278C>T (HEPACAM) MANE Select | NP_689935.2:n.*1278C>T | |
| NR_170124.1:n.586G>A (HEPN1) |