Canonical Allele Identifier: CA10069596

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 284108
• ClinVar RCV Id: RCV000270567 ; RCV002518907
• dbSNP Id: rs761552446
• ExAC: 21:47406536 T / A
• gnomAD v2: 21-47406536-T-A
• gnomAD v4: 21-45986622-T-A
• MyVariant Identifiers: chr21:g.47406536T>A (hg19) ; chr21:g.45986622T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45986622T>A , CM000683.2:g.45986622T>A	GRCh38
NC_000021.8:g.47406536T>A , CM000683.1:g.47406536T>A	GRCh37
NC_000021.7:g.46230964T>A	NCBI36
NG_008674.1:g.9874T>A , LRG_475:g.9874T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.525T>A MANE Select	ENSP00000355180.3:p.Ala175=
ENST00000361866.7:c.525T>A	ENSP00000355180.3:p.Ala175=
ENST00000612273.1:c.525T>A	ENSP00000483630.1:p.Ala175=
NM_001848.2:c.525T>A , LRG_475t1:c.525T>A	NP_001839.2:p.Ala175=
NM_001848.3:c.525T>A MANE Select	NP_001839.2:p.Ala175=