Canonical Allele Identifier: CA10070772

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 288125
• ClinVar RCV Id: RCV000334871 ; RCV000726120 ; RCV001346826
• dbSNP Id: rs760649238
• ExAC: 21:47422174 G / A
• gnomAD v2: 21-47422174-G-A
• gnomAD v3: 21-46002260-G-A
• gnomAD v4: 21-46002260-G-A
• MyVariant Identifiers: chr21:g.47422174G>A (hg19) ; chr21:g.46002260G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46002260G>A , CM000683.2:g.46002260G>A	GRCh38
NC_000021.8:g.47422174G>A , CM000683.1:g.47422174G>A	GRCh37
NC_000021.7:g.46246602G>A	NCBI36
NG_008674.1:g.25512G>A , LRG_475:g.25512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.508G>A
ENST00000612273.2:c.235G>A
ENST00000682634.1:c.235G>A
ENST00000361866.8:c.2109G>A MANE Select	ENSP00000355180.3:p.Thr703=
ENST00000361866.7:c.2109G>A	ENSP00000355180.3:p.Thr703=
ENST00000463060.5:n.508G>A
ENST00000498614.5:n.343G>A
ENST00000612273.1:c.2103G>A	ENSP00000483630.1:p.Thr701=
NM_001848.2:c.2109G>A , LRG_475t1:c.2109G>A	NP_001839.2:p.Thr703=
NM_001848.3:c.2109G>A MANE Select	NP_001839.2:p.Thr703=