Canonical Allele Identifier: CA10606841

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 290607
• ClinVar RCV Id: RCV000350919 ; RCV001503123
• dbSNP Id: rs886044503
• gnomAD v2: 21-47409015-G-A
• gnomAD v3: 21-45989101-G-A
• gnomAD v4: 21-45989101-G-A
• MyVariant Identifiers: chr21:g.47409015G>A (hg19) ; chr21:g.45989101G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45989101G>A , CM000683.2:g.45989101G>A	GRCh38
NC_000021.8:g.47409015G>A , CM000683.1:g.47409015G>A	GRCh37
NC_000021.7:g.46233443G>A	NCBI36
NG_008674.1:g.12353G>A , LRG_475:g.12353G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.822G>A MANE Select	ENSP00000355180.3:p.Pro274=
ENST00000361866.7:c.822G>A	ENSP00000355180.3:p.Pro274=
ENST00000612273.1:c.822G>A	ENSP00000483630.1:p.Pro274=
NM_001848.2:c.822G>A , LRG_475t1:c.822G>A	NP_001839.2:p.Pro274=
NM_001848.3:c.822G>A MANE Select	NP_001839.2:p.Pro274=