Canonical Allele Identifier: CA10071034

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 290286
• ClinVar RCV Id: RCV000338301 ; RCV000405073 ; RCV001436266
• dbSNP Id: rs148561616
• ExAC: 21:47423633 G / A
• gnomAD v2: 21-47423633-G-A
• gnomAD v3: 21-46003719-G-A
• gnomAD v4: 21-46003719-G-A
• MyVariant Identifiers: chr21:g.47423633G>A (hg19) ; chr21:g.46003719G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003719G>A , CM000683.2:g.46003719G>A	GRCh38
NC_000021.8:g.47423633G>A , CM000683.1:g.47423633G>A	GRCh37
NC_000021.7:g.46248061G>A	NCBI36
NG_008674.1:g.26971G>A , LRG_475:g.26971G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1192G>A
ENST00000612273.2:c.919G>A
ENST00000682634.1:c.919G>A
ENST00000361866.8:c.2793G>A MANE Select	ENSP00000355180.3:p.Ser931=
ENST00000361866.7:c.2793G>A	ENSP00000355180.3:p.Ser931=
ENST00000486023.1:n.581G>A
ENST00000498614.5:n.1027G>A
ENST00000612273.1:c.2787G>A	ENSP00000483630.1:p.Ser929=
NM_001848.2:c.2793G>A , LRG_475t1:c.2793G>A	NP_001839.2:p.Ser931=
NM_001848.3:c.2793G>A MANE Select	NP_001839.2:p.Ser931=