Canonical Allele Identifier: CA10070781

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 285731
• ClinVar RCV Id: RCV001452039 ; RCV000725727
• dbSNP Id: rs780032842
• ExAC: 21:47422213 G / A
• gnomAD v2: 21-47422213-G-A
• gnomAD v3: 21-46002299-G-A
• gnomAD v4: 21-46002299-G-A
• COSMIC: COSM5956190
• MyVariant Identifiers: chr21:g.47422213G>A (hg19) ; chr21:g.46002299G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46002299G>A , CM000683.2:g.46002299G>A	GRCh38
NC_000021.8:g.47422213G>A , CM000683.1:g.47422213G>A	GRCh37
NC_000021.7:g.46246641G>A	NCBI36
NG_008674.1:g.25551G>A , LRG_475:g.25551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.547G>A
ENST00000612273.2:c.274G>A
ENST00000682634.1:c.274G>A
ENST00000361866.8:c.2148G>A MANE Select	ENSP00000355180.3:p.Pro716=
ENST00000361866.7:c.2148G>A	ENSP00000355180.3:p.Pro716=
ENST00000463060.5:n.547G>A
ENST00000498614.5:n.382G>A
ENST00000612273.1:c.2142G>A	ENSP00000483630.1:p.Pro714=
NM_001848.2:c.2148G>A , LRG_475t1:c.2148G>A	NP_001839.2:p.Pro716=
NM_001848.3:c.2148G>A MANE Select	NP_001839.2:p.Pro716=