Canonical Allele Identifier: CA321975668

Gene: COL6A1

Linked Data

• dbSNP Id: rs914368442
• gnomAD v3: 21-46001462-A-G
• gnomAD v4: 21-46001462-A-G
• MyVariant Identifiers: chr21:g.47421376A>G (hg19) ; chr21:g.46001462A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.46001462A>G , CM000683.2:g.46001462A>G	GRCh38
NC_000021.8:g.47421376A>G , CM000683.1:g.47421376A>G	GRCh37
NC_000021.7:g.46245804A>G	NCBI36
NG_008674.1:g.24714A>G , LRG_475:g.24714A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000463060.6:n.355+76A>G
ENST00000612273.2:c.82+76A>G
ENST00000682634.1:c.82+76A>G
ENST00000361866.8:c.1956+76A>G MANE Select	ENSP00000355180.3:n.1956+76A>G
ENST00000361866.7:c.1956+76A>G	ENSP00000355180.3:n.1956+76A>G
ENST00000463060.5:n.355+76A>G
ENST00000498614.5:n.190+76A>G
ENST00000612273.1:c.1950+76A>G	ENSP00000483630.1:n.1950+76A>G
NM_001848.2:c.1956+76A>G , LRG_475t1:c.1956+76A>G	NP_001839.2:n.1956+76A>G
NM_001848.3:c.1956+76A>G MANE Select	NP_001839.2:n.1956+76A>G