Canonical Allele Identifier: CA10069950

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 340312
• ClinVar RCV Id: RCV000297988 ; RCV001486298
• dbSNP Id: rs200835287
• ExAC: 21:47410319 G / A
• gnomAD v2: 21-47410319-G-A
• gnomAD v3: 21-45990405-G-A
• gnomAD v4: 21-45990405-G-A
• COSMIC: COSM3551639
• MyVariant Identifiers: chr21:g.47410319G>A (hg19) ; chr21:g.45990405G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45990405G>A , CM000683.2:g.45990405G>A	GRCh38
NC_000021.8:g.47410319G>A , CM000683.1:g.47410319G>A	GRCh37
NC_000021.7:g.46234747G>A	NCBI36
NG_008674.1:g.13657G>A , LRG_475:g.13657G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.985G>A MANE Select	ENSP00000355180.3:p.Gly329Arg
ENST00000361866.7:c.985G>A	ENSP00000355180.3:p.Gly329Arg
ENST00000612273.1:c.985G>A	ENSP00000483630.1:p.Gly329Arg
NM_001848.2:c.985G>A , LRG_475t1:c.985G>A	NP_001839.2:p.Gly329Arg
NM_001848.3:c.985G>A MANE Select	NP_001839.2:p.Gly329Arg