Canonical Allele Identifier: CA10069712

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 291209
• ClinVar RCV Id: RCV000281767 ; RCV000653567
• dbSNP Id: rs748153811
• ExAC: 21:47407424 C / A
• gnomAD v2: 21-47407424-C-A
• gnomAD v3: 21-45987510-C-A
• gnomAD v4: 21-45987510-C-A
• MyVariant Identifiers: chr21:g.47407424C>A (hg19) ; chr21:g.45987510C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45987510C>A , CM000683.2:g.45987510C>A	GRCh38
NC_000021.8:g.47407424C>A , CM000683.1:g.47407424C>A	GRCh37
NC_000021.7:g.46231852C>A	NCBI36
NG_008674.1:g.10762C>A , LRG_475:g.10762C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.750C>A MANE Select	ENSP00000355180.3:p.Phe250Leu
ENST00000361866.7:c.750C>A	ENSP00000355180.3:p.Phe250Leu
ENST00000492851.1:n.402C>A
ENST00000612273.1:c.750C>A	ENSP00000483630.1:p.Phe250Leu
NM_001848.2:c.750C>A , LRG_475t1:c.750C>A	NP_001839.2:p.Phe250Leu
NM_001848.3:c.750C>A MANE Select	NP_001839.2:p.Phe250Leu