Canonical Allele Identifier: CA10069528
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 418910
dbSNP Id: rs773139115

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45984370G>A , CM000683.2:g.45984370G>A GRCh38
NC_000021.8:g.47404284G>A , CM000683.1:g.47404284G>A GRCh37
NC_000021.7:g.46228712G>A NCBI36
NG_008674.1:g.7622G>A , LRG_475:g.7622G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.329G>A MANE Select ENSP00000355180.3:p.Arg110His
ENST00000361866.7:c.329G>A ENSP00000355180.3:p.Arg110His
ENST00000612273.1:c.329G>A ENSP00000483630.1:p.Arg110His
NM_001848.2:c.329G>A , LRG_475t1:c.329G>A NP_001839.2:p.Arg110His
NM_001848.3:c.329G>A MANE Select NP_001839.2:p.Arg110His