Canonical Allele Identifier: CA321512545

Gene: ABCG1

Linked Data

• dbSNP Id: rs908586176
• gnomAD v2: 21-43639106-A-G
• gnomAD v3: 21-42218996-A-G
• gnomAD v4: 21-42218996-A-G
• MyVariant Identifiers: chr21:g.43639106A>G (hg19) ; chr21:g.42218996A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000021.9:g.42218996A>G , CM000683.2:g.42218996A>G	GRCh38
NC_000021.8:g.43639106A>G , CM000683.1:g.43639106A>G	GRCh37
NC_000021.7:g.42512175A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347800.6:c.33+2808A>G	ENSP00000291524.4:n.33+2808A>G
ENST00000398457.6:c.49-6675A>G	ENSP00000381475.2:n.49-6675A>G
ENST00000462050.5:n.227-6675A>G
NM_207627.1:c.49-6675A>G	NP_997510.1:n.49-6675A>G
NM_207628.1:c.-24-6675A>G	NP_997511.1:n.-24-6675A>G
NM_207629.1:c.33+2808A>G	NP_997512.1:n.33+2808A>G
XR_937748.1:n.2744+1154T>C
XR_937748.3:n.5512+1154T>C
NM_207627.2:c.49-6675A>G	NP_997510.1:n.49-6675A>G
NM_207629.2:c.33+2808A>G	NP_997512.1:n.33+2808A>G