Canonical Allele Identifier: CA147380
Gene: COL6A1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 93861
dbSNP Id: rs1053312

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.46003475G>A , CM000683.2:g.46003475G>A GRCh38
NC_000021.8:g.47423389G>A , CM000683.1:g.47423389G>A GRCh37
NC_000021.7:g.46247817G>A NCBI36
NG_008674.1:g.26727G>A , LRG_475:g.26727G>A

Transcript Alleles

HGVS Amino-acid change
NM_001848.2:c.2549G>A , LRG_475t1:c.2549G>A NP_001839.2:p.Arg850His
ENST00000361866.7:c.2549G>A ENSP00000355180.3:p.Arg850His
ENST00000486023.1:n.337G>A
ENST00000498614.5:n.783G>A
ENST00000612273.1:c.2543G>A ENSP00000483630.1:p.Arg848His