Canonical Allele Identifier: CA201123
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 194334
dbSNP Id: rs8187797
gnomAD v2: 7-87069130-C-G
gnomAD v3: 7-87439814-C-G
gnomAD v4: 7-87439814-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87439814C>G , CM000669.2:g.87439814C>G GRCh38
NC_000007.13:g.87069130C>G , CM000669.1:g.87069130C>G GRCh37
NC_000007.12:g.86907066C>G NCBI36
NG_007118.1:g.45619G>C
NG_007118.2:g.45619G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.1584G>C ENSP00000352135.3:p.Glu528Asp
ENST00000643670.1:c.1600G>C ENSP00000496629.1:n.1600G>C
ENST00000644106.1:c.*1121G>C ENSP00000493477.1:n.*1121G>C
ENST00000649586.2:c.1584G>C MANE Select ENSP00000496956.2:p.Glu528Asp
ENST00000265723.8:c.1584G>C ENSP00000265723.4:p.Glu528Asp
ENST00000358400.7:c.1584G>C ENSP00000351172.3:p.Glu528Asp
ENST00000359206.7:c.1584G>C ENSP00000352135.3:p.Glu528Asp
ENST00000453593.5:c.1584G>C ENSP00000392983.1:p.Glu528Asp
NM_000443.3:c.1584G>C NP_000434.1:p.Glu528Asp
NM_018849.2:c.1584G>C NP_061337.1:p.Glu528Asp
NM_018850.2:c.1584G>C NP_061338.1:p.Glu528Asp
XM_011516308.1:c.1584G>C XP_011514610.1:p.Glu528Asp
XM_011516309.1:c.1584G>C XP_011514611.1:p.Glu528Asp
XM_011516310.1:c.1584G>C XP_011514612.1:p.Glu528Asp
XM_011516311.1:c.1584G>C XP_011514613.1:p.Glu528Asp
XM_011516312.1:c.1584G>C XP_011514614.1:p.Glu528Asp
XM_011516313.1:c.1584G>C XP_011514615.1:p.Glu528Asp
XM_011516314.1:c.1605G>C XP_011514616.1:p.Glu535Asp
XM_011516315.1:c.924G>C XP_011514617.1:p.Glu308Asp
XR_927478.1:n.1680G>C
XM_011516308.3:c.1854G>C XP_011514610.3:p.Glu618Asp
XM_011516309.3:c.1854G>C XP_011514611.3:p.Glu618Asp
XM_011516310.3:c.1854G>C XP_011514612.3:p.Glu618Asp
XM_011516311.3:c.1854G>C XP_011514613.3:p.Glu618Asp
XM_011516312.3:c.1854G>C XP_011514614.3:p.Glu618Asp
XM_011516313.3:c.1854G>C XP_011514615.2:p.Glu618Asp
XM_011516315.3:c.924G>C XP_011514617.2:p.Glu308Asp
XM_017012323.2:c.1584G>C XP_016867812.1:p.Glu528Asp
XR_001744809.2:n.2355G>C
XR_001744810.2:n.2350G>C
NM_000443.4:c.1584G>C MANE Select NP_000434.1:p.Glu528Asp
NM_018849.3:c.1584G>C NP_061337.1:p.Glu528Asp
NM_018850.3:c.1584G>C NP_061338.1:p.Glu528Asp