Canonical Allele Identifier: CA10070665

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 1422745
• ClinVar RCV Id: RCV001919699
• dbSNP Id: rs750677675
• ExAC: 21:47421300 G / A
• gnomAD v2: 21-47421300-G-A
• gnomAD v4: 21-46001386-G-A
• MyVariant Identifiers: chr21:g.47421300G>A (hg19) ; chr21:g.46001386G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001386G>A , CM000683.2:g.46001386G>A	GRCh38
NC_000021.8:g.47421300G>A , CM000683.1:g.47421300G>A	GRCh37
NC_000021.7:g.46245728G>A	NCBI36
NG_008674.1:g.24638G>A , LRG_475:g.24638G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000463060.6:n.355G>A
ENST00000612273.2:c.82G>A
ENST00000682634.1:c.82G>A
ENST00000361866.8:c.1956G>A MANE Select	ENSP00000355180.3:p.Lys652=
ENST00000361866.7:c.1956G>A	ENSP00000355180.3:p.Lys652=
ENST00000463060.5:n.355G>A
ENST00000498614.5:n.190G>A
ENST00000612273.1:c.1950G>A	ENSP00000483630.1:p.Lys650=
NM_001848.2:c.1956G>A , LRG_475t1:c.1956G>A	NP_001839.2:p.Lys652=
NM_001848.3:c.1956G>A MANE Select	NP_001839.2:p.Lys652=