Canonical Allele Identifier: CA368061062
Gene: ABCB4 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417328A>T , CM000669.2:g.87417328A>T GRCh38
NC_000007.13:g.87046644A>T , CM000669.1:g.87046644A>T GRCh37
NC_000007.12:g.86884580A>T NCBI36
NG_007118.1:g.68105T>A
NG_007118.2:g.68105T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2666T>A ENSP00000352135.3:p.Leu889Gln
ENST00000649586.2:c.2666T>A MANE Select ENSP00000496956.2:p.Leu889Gln
ENST00000265723.8:c.2666T>A ENSP00000265723.4:p.Leu889Gln
ENST00000358400.7:c.2666T>A ENSP00000351172.3:p.Leu889Gln
ENST00000359206.7:c.2666T>A ENSP00000352135.3:p.Leu889Gln
ENST00000453593.5:c.2666T>A ENSP00000392983.1:p.Leu889Gln
NM_000443.3:c.2666T>A NP_000434.1:p.Leu889Gln
NM_018849.2:c.2666T>A NP_061337.1:p.Leu889Gln
NM_018850.2:c.2666T>A NP_061338.1:p.Leu889Gln
XM_011516308.1:c.2666T>A XP_011514610.1:p.Leu889Gln
XM_011516309.1:c.2666T>A XP_011514611.1:p.Leu889Gln
XM_011516310.1:c.2561T>A XP_011514612.1:p.Leu854Gln
XM_011516311.1:c.2666T>A XP_011514613.1:p.Leu889Gln
XM_011516312.1:c.2666T>A XP_011514614.1:p.Leu889Gln
XM_011516313.1:c.2666T>A XP_011514615.1:p.Leu889Gln
XM_011516314.1:c.2687T>A XP_011514616.1:p.Leu896Gln
XM_011516315.1:c.2006T>A XP_011514617.1:p.Leu669Gln
XR_927478.1:n.2762T>A
XM_011516308.3:c.2936T>A XP_011514610.3:p.Leu979Gln
XM_011516309.3:c.2936T>A XP_011514611.3:p.Leu979Gln
XM_011516310.3:c.2831T>A XP_011514612.3:p.Leu944Gln
XM_011516311.3:c.2936T>A XP_011514613.3:p.Leu979Gln
XM_011516312.3:c.2936T>A XP_011514614.3:p.Leu979Gln
XM_011516313.3:c.2936T>A XP_011514615.2:p.Leu979Gln
XM_011516315.3:c.2006T>A XP_011514617.2:p.Leu669Gln
XM_017012323.2:c.2666T>A XP_016867812.1:p.Leu889Gln
XR_001744809.2:n.3437T>A
NM_000443.4:c.2666T>A MANE Select NP_000434.1:p.Leu889Gln
NM_018849.3:c.2666T>A NP_061337.1:p.Leu889Gln
NM_018850.3:c.2666T>A NP_061338.1:p.Leu889Gln