Canonical Allele Identifier: CA1723591000
Community Standard Title: NM_000443.4(ABCB4):c.3481C= (p.Pro1161=)
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87406293G= , CM000669.2:g.87406293G= GRCh38
NC_000007.13:g.87035609G= , CM000669.1:g.87035609G= GRCh37
NC_000007.12:g.86873545G= NCBI36
NG_007118.1:g.79140C=
NG_007118.2:g.79140C=

Transcript Alleles

HGVS Amino-acid Change
NM_000443.4:c.3481C= MANE Select NP_000434.1:p.Pro1161=
ENST00000649586.2:c.3481C= MANE Select ENSP00000496956.2:p.Pro1161=
NM_000443.3:c.3481C= NP_000434.1:p.Pro1161=
NM_018849.2:c.3502C= NP_061337.1:p.Pro1168=
NM_018849.3:c.3502C= NP_061337.1:p.Pro1168=
NM_018850.2:c.3340C= NP_061338.1:p.Pro1114=
NM_018850.3:c.3340C= NP_061338.1:p.Pro1114=
ENST00000265723.8:c.3502C= ENSP00000265723.4:p.Pro1168=
ENST00000358400.7:c.3340C= ENSP00000351172.3:p.Pro1114=
ENST00000359206.7:c.3481C= ENSP00000352135.3:p.Pro1161=
ENST00000359206.8:c.3481C= ENSP00000352135.3:p.Pro1161=
ENST00000453593.5:c.3340C= ENSP00000392983.1:p.Pro1114=
ENST00000467079.1:n.421C=
XM_011516308.1:c.3502C= XP_011514610.1:p.Pro1168=
XM_011516308.3:c.3772C= XP_011514610.3:p.Pro1258=
XM_011516309.1:c.3481C= XP_011514611.1:p.Pro1161=
XM_011516309.3:c.3751C= XP_011514611.3:p.Pro1251=
XM_011516310.1:c.3397C= XP_011514612.1:p.Pro1133=
XM_011516310.3:c.3667C= XP_011514612.3:p.Pro1223=
XM_011516311.1:c.3373C= XP_011514613.1:p.Pro1125=
XM_011516311.3:c.3643C= XP_011514613.3:p.Pro1215=
XM_011516312.1:c.3361C= XP_011514614.1:p.Pro1121=
XM_011516312.3:c.3631C= XP_011514614.3:p.Pro1211=
XM_011516313.1:c.3340C= XP_011514615.1:p.Pro1114=
XM_011516313.3:c.3610C= XP_011514615.2:p.Pro1204=
XM_011516314.1:c.3523C= XP_011514616.1:p.Pro1175=
XM_011516315.1:c.2842C= XP_011514617.1:p.Pro948=
XM_011516315.3:c.2842C= XP_011514617.2:p.Pro948=
XM_017012323.2:c.3502C= XP_016867812.1:p.Pro1168=
XR_001744809.2:n.4010C=