Canonical Allele Identifier: CA10070659

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 512683
• ClinVar RCV Id: RCV000613437 ; RCV000875369 ; RCV001288044
• dbSNP Id: rs139914666
• ExAC: 21:47421285 G / A
• gnomAD v2: 21-47421285-G-A
• gnomAD v3: 21-46001371-G-A
• gnomAD v4: 21-46001371-G-A
• MyVariant Identifiers: chr21:g.47421285G>A (hg19) ; chr21:g.46001371G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001371G>A , CM000683.2:g.46001371G>A	GRCh38
NC_000021.8:g.47421285G>A , CM000683.1:g.47421285G>A	GRCh37
NC_000021.7:g.46245713G>A	NCBI36
NG_008674.1:g.24623G>A , LRG_475:g.24623G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.340G>A
ENST00000612273.2:c.67G>A
ENST00000682634.1:c.67G>A
ENST00000361866.8:c.1941G>A MANE Select	ENSP00000355180.3:p.Arg647=
ENST00000361866.7:c.1941G>A	ENSP00000355180.3:p.Arg647=
ENST00000463060.5:n.340G>A
ENST00000498614.5:n.175G>A
ENST00000612273.1:c.1935G>A	ENSP00000483630.1:p.Arg645=
NM_001848.2:c.1941G>A , LRG_475t1:c.1941G>A	NP_001839.2:p.Arg647=
NM_001848.3:c.1941G>A MANE Select	NP_001839.2:p.Arg647=