Canonical Allele Identifier: CA10069713
Gene: COL6A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 283242
ClinVar RCV Id: RCV000344836 RCV000384249 RCV001054436
dbSNP Id: rs145849970
ExAC: 21:47407425 G / A
gnomAD v2: 21-47407425-G-A
gnomAD v3: 21-45987511-G-A
gnomAD v4: 21-45987511-G-A
MyVariant Identifiers: chr21:g.47407425G>A (hg19) chr21:g.45987511G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.45987511G>A , CM000683.2:g.45987511G>A GRCh38
NC_000021.8:g.47407425G>A , CM000683.1:g.47407425G>A GRCh37
NC_000021.7:g.46231853G>A NCBI36
NG_008674.1:g.10763G>A , LRG_475:g.10763G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000361866.8:c.751G>A MANE Select ENSP00000355180.3:p.Glu251Lys
ENST00000361866.7:c.751G>A ENSP00000355180.3:p.Glu251Lys
ENST00000492851.1:n.403G>A
ENST00000612273.1:c.751G>A ENSP00000483630.1:p.Glu251Lys
NM_001848.2:c.751G>A , LRG_475t1:c.751G>A NP_001839.2:p.Glu251Lys
NM_001848.3:c.751G>A MANE Select NP_001839.2:p.Glu251Lys
Search 100 bp 5'
Search 100 bp 3'