Canonical Allele Identifier: CA321980261

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 498189
• ClinVar RCV Id: RCV000598463 ; RCV001086353
• dbSNP Id: rs890068806
• gnomAD v2: 21-47423693-G-A
• gnomAD v3: 21-46003779-G-A
• gnomAD v4: 21-46003779-G-A
• MyVariant Identifiers: chr21:g.47423693G>A (hg19) ; chr21:g.46003779G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003779G>A , CM000683.2:g.46003779G>A	GRCh38
NC_000021.8:g.47423693G>A , CM000683.1:g.47423693G>A	GRCh37
NC_000021.7:g.46248121G>A	NCBI36
NG_008674.1:g.27031G>A , LRG_475:g.27031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1252G>A
ENST00000612273.2:c.979G>A
ENST00000682634.1:c.979G>A
ENST00000361866.8:c.2853G>A MANE Select	ENSP00000355180.3:p.Thr951=
ENST00000361866.7:c.2853G>A	ENSP00000355180.3:p.Thr951=
ENST00000486023.1:n.641G>A
ENST00000498614.5:n.1087G>A
ENST00000612273.1:c.2847G>A	ENSP00000483630.1:p.Thr949=
NM_001848.2:c.2853G>A , LRG_475t1:c.2853G>A	NP_001839.2:p.Thr951=
NM_001848.3:c.2853G>A MANE Select	NP_001839.2:p.Thr951=