Canonical Allele Identifier: CA10070999

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 509023
• ClinVar RCV Id: RCV000601071 ; RCV000730975 ; RCV001478676
• dbSNP Id: rs527265374
• ExAC: 21:47423510 G / A
• gnomAD v2: 21-47423510-G-A
• gnomAD v3: 21-46003596-G-A
• gnomAD v4: 21-46003596-G-A
• MyVariant Identifiers: chr21:g.47423510G>A (hg19) ; chr21:g.46003596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003596G>A , CM000683.2:g.46003596G>A	GRCh38
NC_000021.8:g.47423510G>A , CM000683.1:g.47423510G>A	GRCh37
NC_000021.7:g.46247938G>A	NCBI36
NG_008674.1:g.26848G>A , LRG_475:g.26848G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1069G>A
ENST00000612273.2:c.796G>A
ENST00000682634.1:c.796G>A
ENST00000361866.8:c.2670G>A MANE Select	ENSP00000355180.3:p.Ser890=
ENST00000361866.7:c.2670G>A	ENSP00000355180.3:p.Ser890=
ENST00000486023.1:n.458G>A
ENST00000498614.5:n.904G>A
ENST00000612273.1:c.2664G>A	ENSP00000483630.1:p.Ser888=
NM_001848.2:c.2670G>A , LRG_475t1:c.2670G>A	NP_001839.2:p.Ser890=
NM_001848.3:c.2670G>A MANE Select	NP_001839.2:p.Ser890=