Canonical Allele Identifier: CA10070229

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 281119
• ClinVar RCV Id: RCV000280526 ; RCV000403757 ; RCV000548930 ; RCV001311580 ; RCV001265659
• dbSNP Id: rs151158105
• ExAC: 21:47412687 G / A
• gnomAD v2: 21-47412687-G-A
• gnomAD v3: 21-45992773-G-A
• gnomAD v4: 21-45992773-G-A
• COSMIC: COSM3668531
• MyVariant Identifiers: chr21:g.47412687G>A (hg19) ; chr21:g.45992773G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45992773G>A , CM000683.2:g.45992773G>A	GRCh38
NC_000021.8:g.47412687G>A , CM000683.1:g.47412687G>A	GRCh37
NC_000021.7:g.46237115G>A	NCBI36
NG_008674.1:g.16025G>A , LRG_475:g.16025G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1298G>A MANE Select	ENSP00000355180.3:p.Arg433Gln
ENST00000361866.7:c.1298G>A	ENSP00000355180.3:p.Arg433Gln
ENST00000612273.1:c.1298G>A	ENSP00000483630.1:p.Arg433Gln
NM_001848.2:c.1298G>A , LRG_475t1:c.1298G>A	NP_001839.2:p.Arg433Gln
NM_001848.3:c.1298G>A MANE Select	NP_001839.2:p.Arg433Gln