Canonical Allele Identifier: CA242672

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 195952
• ClinVar RCV Id: RCV000176643 ; RCV000547013 ; RCV000764264 ; RCV002517701
• dbSNP Id: rs374315921
• ExAC: 21:47419076 A / G
• gnomAD v2: 21-47419076-A-G
• gnomAD v3: 21-45999162-A-G
• gnomAD v4: 21-45999162-A-G
• MyVariant Identifiers: chr21:g.47419076A>G (hg19) ; chr21:g.45999162A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45999162A>G , CM000683.2:g.45999162A>G	GRCh38
NC_000021.8:g.47419076A>G , CM000683.1:g.47419076A>G	GRCh37
NC_000021.7:g.46243504A>G	NCBI36
NG_008674.1:g.22414A>G , LRG_475:g.22414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.1684A>G MANE Select	ENSP00000355180.3:p.Ile562Val
ENST00000361866.7:c.1684A>G	ENSP00000355180.3:p.Ile562Val
ENST00000612273.1:c.1684A>G	ENSP00000483630.1:p.Ile562Val
NM_001848.2:c.1684A>G , LRG_475t1:c.1684A>G	NP_001839.2:p.Ile562Val
NM_001848.3:c.1684A>G MANE Select	NP_001839.2:p.Ile562Val