Canonical Allele Identifier: CA221770

Gene: COL6A1

Linked Data

• ClinVar Variation Id: 93851
• ClinVar RCV Id: RCV000079788 ; RCV001142888 ; RCV001086476
• dbSNP Id: rs376567898
• ExAC: 21:47422494 G / C
• gnomAD v2: 21-47422494-G-C
• gnomAD v3: 21-46002580-G-C
• gnomAD v4: 21-46002580-G-C
• MyVariant Identifiers: chr21:g.47422494G>C (hg19) ; chr21:g.46002580G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46002580G>C , CM000683.2:g.46002580G>C	GRCh38
NC_000021.8:g.47422494G>C , CM000683.1:g.47422494G>C	GRCh37
NC_000021.7:g.46246922G>C	NCBI36
NG_008674.1:g.25832G>C , LRG_475:g.25832G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.703G>C
ENST00000612273.2:c.430G>C
ENST00000682634.1:c.430G>C
ENST00000361866.8:c.2304G>C MANE Select	ENSP00000355180.3:p.Gln768His
ENST00000361866.7:c.2304G>C	ENSP00000355180.3:p.Gln768His
ENST00000463060.5:n.703G>C
ENST00000486023.1:n.92G>C
ENST00000498614.5:n.538G>C
ENST00000612273.1:c.2298G>C	ENSP00000483630.1:p.Gln766His
NM_001848.2:c.2304G>C , LRG_475t1:c.2304G>C	NP_001839.2:p.Gln768His
NM_001848.3:c.2304G>C MANE Select	NP_001839.2:p.Gln768His