Canonical Allele Identifier: CA2390698725
Gene: ABCG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000021.9:g.42218938G= , CM000683.2:g.42218938G= GRCh38
NC_000021.8:g.43639048G= , CM000683.1:g.43639048G= GRCh37
NC_000021.7:g.42512117G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000347800.6:c.33+2750G= ENSP00000291524.4:n.33+2750G=
ENST00000398457.6:c.49-6733G= ENSP00000381475.2:n.49-6733G=
ENST00000462050.5:n.227-6733G=
NM_207627.1:c.49-6733G= NP_997510.1:n.49-6733G=
NM_207628.1:c.-24-6733G= NP_997511.1:n.-24-6733G=
NM_207629.1:c.33+2750G= NP_997512.1:n.33+2750G=
XR_937748.1:n.2744+1212C=
XR_937748.3:n.5512+1212C=
NM_207627.2:c.49-6733G= NP_997510.1:n.49-6733G=
NM_207629.2:c.33+2750G= NP_997512.1:n.33+2750G=