Canonical Allele Identifier: CA1723588554
Community Standard Title: NM_000443.4(ABCB4):c.3608C= (p.Ser1203=)
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87403160G= , CM000669.2:g.87403160G= GRCh38
NC_000007.13:g.87032476G= , CM000669.1:g.87032476G= GRCh37
NC_000007.12:g.86870412G= NCBI36
NG_007118.1:g.82273C=
NG_007118.2:g.82273C=

Transcript Alleles

HGVS Amino-acid Change
NM_000443.4:c.3608C= MANE Select NP_000434.1:p.Ser1203=
ENST00000649586.2:c.3608C= MANE Select ENSP00000496956.2:p.Ser1203=
NM_000443.3:c.3608C= NP_000434.1:p.Ser1203=
NM_018849.2:c.3629C= NP_061337.1:p.Ser1210=
NM_018849.3:c.3629C= NP_061337.1:p.Ser1210=
NM_018850.2:c.3467C= NP_061338.1:p.Ser1156=
NM_018850.3:c.3467C= NP_061338.1:p.Ser1156=
ENST00000265723.8:c.3629C= ENSP00000265723.4:p.Ser1210=
ENST00000358400.7:c.3467C= ENSP00000351172.3:p.Ser1156=
ENST00000359206.7:c.3608C= ENSP00000352135.3:p.Ser1203=
ENST00000359206.8:c.3608C= ENSP00000352135.3:p.Ser1203=
ENST00000440025.1:c.42C=
ENST00000453593.5:c.3467C= ENSP00000392983.1:p.Ser1156=
ENST00000467983.1:n.220C=
XM_011516308.1:c.3629C= XP_011514610.1:p.Ser1210=
XM_011516308.3:c.3899C= XP_011514610.3:p.Ser1300=
XM_011516309.1:c.3608C= XP_011514611.1:p.Ser1203=
XM_011516309.3:c.3878C= XP_011514611.3:p.Ser1293=
XM_011516310.1:c.3524C= XP_011514612.1:p.Ser1175=
XM_011516310.3:c.3794C= XP_011514612.3:p.Ser1265=
XM_011516311.1:c.3500C= XP_011514613.1:p.Ser1167=
XM_011516311.3:c.3770C= XP_011514613.3:p.Ser1257=
XM_011516312.1:c.3488C= XP_011514614.1:p.Ser1163=
XM_011516312.3:c.3758C= XP_011514614.3:p.Ser1253=
XM_011516313.1:c.3467C= XP_011514615.1:p.Ser1156=
XM_011516313.3:c.3737C= XP_011514615.2:p.Ser1246=
XM_011516314.1:c.3650C= XP_011514616.1:p.Ser1217=
XM_011516315.1:c.2969C= XP_011514617.1:p.Ser990=
XM_011516315.3:c.2969C= XP_011514617.2:p.Ser990=
XM_017012323.2:c.3629C= XP_016867812.1:p.Ser1210=
XR_001744809.2:n.4137C=