Canonical Allele Identifier: CA10070970

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 283014
• ClinVar RCV Id: RCV000359853 ; RCV000363076 ; RCV001089272
• dbSNP Id: rs367832752
• ExAC: 21:47423435 G / A
• gnomAD v2: 21-47423435-G-A
• gnomAD v3: 21-46003521-G-A
• gnomAD v4: 21-46003521-G-A
• COSMIC: COSM4102126
• MyVariant Identifiers: chr21:g.47423435G>A (hg19) ; chr21:g.46003521G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003521G>A , CM000683.2:g.46003521G>A	GRCh38
NC_000021.8:g.47423435G>A , CM000683.1:g.47423435G>A	GRCh37
NC_000021.7:g.46247863G>A	NCBI36
NG_008674.1:g.26773G>A , LRG_475:g.26773G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.994G>A
ENST00000612273.2:c.721G>A
ENST00000682634.1:c.721G>A
ENST00000361866.8:c.2595G>A MANE Select	ENSP00000355180.3:p.Thr865=
ENST00000361866.7:c.2595G>A	ENSP00000355180.3:p.Thr865=
ENST00000486023.1:n.383G>A
ENST00000498614.5:n.829G>A
ENST00000612273.1:c.2589G>A	ENSP00000483630.1:p.Thr863=
NM_001848.2:c.2595G>A , LRG_475t1:c.2595G>A	NP_001839.2:p.Thr865=
NM_001848.3:c.2595G>A MANE Select	NP_001839.2:p.Thr865=