Canonical Allele Identifier: CA10069748

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 290918
• ClinVar RCV Id: RCV000333632 ; RCV001411685
• dbSNP Id: rs143396975
• ExAC: 21:47407544 G / A
• gnomAD v2: 21-47407544-G-A
• gnomAD v3: 21-45987630-G-A
• gnomAD v4: 21-45987630-G-A
• MyVariant Identifiers: chr21:g.47407544G>A (hg19) ; chr21:g.45987630G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987630G>A , CM000683.2:g.45987630G>A	GRCh38
NC_000021.8:g.47407544G>A , CM000683.1:g.47407544G>A	GRCh37
NC_000021.7:g.46231972G>A	NCBI36
NG_008674.1:g.10882G>A , LRG_475:g.10882G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.780G>A MANE Select	ENSP00000355180.3:p.Gly260=
ENST00000361866.7:c.780G>A	ENSP00000355180.3:p.Gly260=
ENST00000492851.1:n.432G>A
ENST00000612273.1:c.780G>A	ENSP00000483630.1:p.Gly260=
NM_001848.2:c.780G>A , LRG_475t1:c.780G>A	NP_001839.2:p.Gly260=
NM_001848.3:c.780G>A MANE Select	NP_001839.2:p.Gly260=