Canonical Allele Identifier: CA241439

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 195151
• ClinVar RCV Id: RCV000202666 ; RCV000390817 ; RCV000724857 ; RCV001086453 ; RCV004537387
• dbSNP Id: rs143502850
• ExAC: 21:47402620 C / A
• gnomAD v2: 21-47402620-C-A
• gnomAD v3: 21-45982706-C-A
• gnomAD v4: 21-45982706-C-A
• MyVariant Identifiers: chr21:g.47402620C>A (hg19) ; chr21:g.45982706C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.45982706C>A , CM000683.2:g.45982706C>A	GRCh38
NC_000021.8:g.47402620C>A , CM000683.1:g.47402620C>A	GRCh37
NC_000021.7:g.46227048C>A	NCBI36
NG_008674.1:g.5958C>A , LRG_475:g.5958C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361866.8:c.170C>A MANE Select	ENSP00000355180.3:p.Ala57Asp
ENST00000361866.7:c.170C>A	ENSP00000355180.3:p.Ala57Asp
ENST00000612273.1:c.170C>A	ENSP00000483630.1:p.Ala57Asp
NM_001848.2:c.170C>A , LRG_475t1:c.170C>A	NP_001839.2:p.Ala57Asp
NM_001848.3:c.170C>A MANE Select	NP_001839.2:p.Ala57Asp