Canonical Allele Identifier: CA10070849

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 289117
• ClinVar RCV Id: RCV000295436 ; RCV000309967 ; RCV001087333 ; RCV004535423
• dbSNP Id: rs149910296
• ExAC: 21:47422545 C / A
• gnomAD v2: 21-47422545-C-A
• gnomAD v3: 21-46002631-C-A
• gnomAD v4: 21-46002631-C-A
• MyVariant Identifiers: chr21:g.47422545C>A (hg19) ; chr21:g.46002631C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46002631C>A , CM000683.2:g.46002631C>A	GRCh38
NC_000021.8:g.47422545C>A , CM000683.1:g.47422545C>A	GRCh37
NC_000021.7:g.46246973C>A	NCBI36
NG_008674.1:g.25883C>A , LRG_475:g.25883C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.754C>A
ENST00000612273.2:c.481C>A
ENST00000682634.1:c.481C>A
ENST00000361866.8:c.2355C>A MANE Select	ENSP00000355180.3:p.Gly785=
ENST00000361866.7:c.2355C>A	ENSP00000355180.3:p.Gly785=
ENST00000463060.5:n.754C>A
ENST00000486023.1:n.143C>A
ENST00000498614.5:n.589C>A
ENST00000612273.1:c.2349C>A	ENSP00000483630.1:p.Gly783=
NM_001848.2:c.2355C>A , LRG_475t1:c.2355C>A	NP_001839.2:p.Gly785=
NM_001848.3:c.2355C>A MANE Select	NP_001839.2:p.Gly785=