Canonical Allele Identifier: CA10070394

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 476416
• ClinVar RCV Id: RCV000532828 ; RCV000594225
• dbSNP Id: rs760815168
• ExAC: 21:47418050 G / A
• gnomAD v2: 21-47418050-G-A
• gnomAD v3: 21-45998136-G-A
• gnomAD v4: 21-45998136-G-A
• MyVariant Identifiers: chr21:g.47418050G>A (hg19) ; chr21:g.45998136G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45998136G>A , CM000683.2:g.45998136G>A	GRCh38
NC_000021.8:g.47418050G>A , CM000683.1:g.47418050G>A	GRCh37
NC_000021.7:g.46242478G>A	NCBI36
NG_008674.1:g.21388G>A , LRG_475:g.21388G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683550.1:n.315G>A
ENST00000361866.8:c.1540G>A MANE Select	ENSP00000355180.3:p.Ala514Thr
ENST00000361866.7:c.1540G>A	ENSP00000355180.3:p.Ala514Thr
ENST00000612273.1:c.1540G>A	ENSP00000483630.1:p.Ala514Thr
NM_001848.2:c.1540G>A , LRG_475t1:c.1540G>A	NP_001839.2:p.Ala514Thr
NM_001848.3:c.1540G>A MANE Select	NP_001839.2:p.Ala514Thr