Canonical Allele Identifier: CA10071042

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 476432
• ClinVar RCV Id: RCV000591795 ; RCV001084881 ; RCV004543240
• dbSNP Id: rs111451684
• ExAC: 21:47423660 G / A
• gnomAD v2: 21-47423660-G-A
• gnomAD v3: 21-46003746-G-A
• gnomAD v4: 21-46003746-G-A
• MyVariant Identifiers: chr21:g.47423660G>A (hg19) ; chr21:g.46003746G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46003746G>A , CM000683.2:g.46003746G>A	GRCh38
NC_000021.8:g.47423660G>A , CM000683.1:g.47423660G>A	GRCh37
NC_000021.7:g.46248088G>A	NCBI36
NG_008674.1:g.26998G>A , LRG_475:g.26998G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.1219G>A
ENST00000612273.2:c.946G>A
ENST00000682634.1:c.946G>A
ENST00000361866.8:c.2820G>A MANE Select	ENSP00000355180.3:p.Leu940=
ENST00000361866.7:c.2820G>A	ENSP00000355180.3:p.Leu940=
ENST00000486023.1:n.608G>A
ENST00000498614.5:n.1054G>A
ENST00000612273.1:c.2814G>A	ENSP00000483630.1:p.Leu938=
NM_001848.2:c.2820G>A , LRG_475t1:c.2820G>A	NP_001839.2:p.Leu940=
NM_001848.3:c.2820G>A MANE Select	NP_001839.2:p.Leu940=