Canonical Allele Identifier: CA123355
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 13687
dbSNP Id: rs121918440

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87411948G>A , CM000669.2:g.87411948G>A GRCh38
NC_000007.13:g.87041264G>A , CM000669.1:g.87041264G>A GRCh37
NC_000007.12:g.86879200G>A NCBI36
NG_007118.1:g.73485C>T
NG_007118.2:g.73485C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.2869C>T ENSP00000352135.3:p.Arg957Ter
ENST00000649586.2:c.2869C>T MANE Select ENSP00000496956.2:p.Arg957Ter
ENST00000265723.8:c.2869C>T ENSP00000265723.4:p.Arg957Ter
ENST00000358400.7:c.2783+1669C>T ENSP00000351172.3:p.=
ENST00000359206.7:c.2869C>T ENSP00000352135.3:p.Arg957Ter
ENST00000453593.5:n.2783+1669C>T ENSP00000392983.1:p.=
NM_000443.3:c.2869C>T NP_000434.1:p.Arg957Ter
NM_018849.2:c.2869C>T NP_061337.1:p.Arg957Ter
NM_018850.2:c.2783+1669C>T NP_061338.1:p.=
XM_011516308.1:c.2869C>T XP_011514610.1:p.Arg957Ter
XM_011516309.1:c.2869C>T XP_011514611.1:p.Arg957Ter
XM_011516310.1:c.2764C>T XP_011514612.1:p.Arg922Ter
XM_011516311.1:c.2784-44C>T XP_011514613.1:p.=
XM_011516312.1:c.2783+1669C>T XP_011514614.1:p.=
XM_011516313.1:c.2783+1669C>T XP_011514615.1:p.=
XM_011516314.1:c.2890C>T XP_011514616.1:p.Arg964Ter
XM_011516315.1:c.2209C>T XP_011514617.1:p.Arg737Ter
XR_927478.1:n.2779-2556C>T
XM_011516308.3:c.3139C>T XP_011514610.3:p.Arg1047Ter
XM_011516309.3:c.3139C>T XP_011514611.3:p.Arg1047Ter
XM_011516310.3:c.3034C>T XP_011514612.3:p.Arg1012Ter
XM_011516311.3:c.3054-44C>T XP_011514613.3:p.=
XM_011516312.3:c.3053+1669C>T XP_011514614.3:p.=
XM_011516313.3:c.3053+1669C>T XP_011514615.2:p.=
XM_011516315.3:c.2209C>T XP_011514617.2:p.Arg737Ter
XM_017012323.2:c.2869C>T XP_016867812.1:p.Arg957Ter
XR_001744809.2:n.3454-2556C>T
NM_000443.4:c.2869C>T MANE Select NP_000434.1:p.Arg957Ter
NM_018849.3:c.2869C>T NP_061337.1:p.Arg957Ter
NM_018850.3:c.2783+1669C>T NP_061338.1:p.=