Canonical Allele Identifier: CA2390698574
Gene: ABCG1 HGNC NCBI

Linked Data

dbSNP Id: rs1601340997

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42218684T>G , CM000683.2:g.42218684T>G GRCh38
NC_000021.8:g.43638794T>G , CM000683.1:g.43638794T>G GRCh37
NC_000021.7:g.42511863T>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000347800.6:c.33+2496T>G ENSP00000291524.4:n.33+2496T>G
ENST00000398457.6:c.49-6987T>G ENSP00000381475.2:n.49-6987T>G
ENST00000462050.5:n.227-6987T>G
NM_207627.1:c.49-6987T>G NP_997510.1:n.49-6987T>G
NM_207628.1:c.-24-6987T>G NP_997511.1:n.-24-6987T>G
NM_207629.1:c.33+2496T>G NP_997512.1:n.33+2496T>G
XR_937748.1:n.2744+1466A>C
XR_937748.3:n.5512+1466A>C
NM_207627.2:c.49-6987T>G NP_997510.1:n.49-6987T>G
NM_207629.2:c.33+2496T>G NP_997512.1:n.33+2496T>G