Canonical Allele Identifier: CA16621794
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 425278
ClinVar RCV Id: RCV000487813
dbSNP Id: rs1064797287

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987175G>A , CM000683.2:g.45987175G>A GRCh38
NC_000021.8:g.47407089G>A , CM000683.1:g.47407089G>A GRCh37
NC_000021.7:g.46231517G>A NCBI36
NG_008674.1:g.10427G>A , LRG_475:g.10427G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000361866.8:c.738G>A MANE Select ENSP00000355180.3:p.Val246=
ENST00000361866.7:c.738G>A ENSP00000355180.3:p.Val246=
ENST00000492851.1:n.67G>A
ENST00000612273.1:c.738G>A ENSP00000483630.1:p.Val246=
NM_001848.2:c.738G>A , LRG_475t1:c.738G>A NP_001839.2:p.Val246=
NM_001848.3:c.738G>A MANE Select NP_001839.2:p.Val246=