Canonical Allele Identifier: CA321512517
Gene: ABCG1 HGNC NCBI

Linked Data

dbSNP Id: rs138515663
gnomAD v2: 21-43639074-T-A
gnomAD v3: 21-42218964-T-A
gnomAD v4: 21-42218964-T-A
MyVariant Identifiers: chr21:g.43639074T>A (hg19) chr21:g.42218964T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42218964T>A , CM000683.2:g.42218964T>A GRCh38
NC_000021.8:g.43639074T>A , CM000683.1:g.43639074T>A GRCh37
NC_000021.7:g.42512143T>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347800.6:c.33+2776T>A ENSP00000291524.4:n.33+2776T>A
ENST00000398457.6:c.49-6707T>A ENSP00000381475.2:n.49-6707T>A
ENST00000462050.5:n.227-6707T>A
NM_207627.1:c.49-6707T>A NP_997510.1:n.49-6707T>A
NM_207628.1:c.-24-6707T>A NP_997511.1:n.-24-6707T>A
NM_207629.1:c.33+2776T>A NP_997512.1:n.33+2776T>A
XR_937748.1:n.2744+1186A>T
XR_937748.3:n.5512+1186A>T
NM_207627.2:c.49-6707T>A NP_997510.1:n.49-6707T>A
NM_207629.2:c.33+2776T>A NP_997512.1:n.33+2776T>A
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