Canonical Allele Identifier: CA4326731

Gene: ABCB4

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3608C>T	ENSP00000352135.3:p.Ser1203Leu
ENST00000649586.2:c.3608C>T MANE Select	ENSP00000496956.2:p.Ser1203Leu
ENST00000265723.8:c.3629C>T	ENSP00000265723.4:p.Ser1210Leu
ENST00000358400.7:c.3467C>T	ENSP00000351172.3:p.Ser1156Leu
ENST00000359206.7:c.3608C>T	ENSP00000352135.3:p.Ser1203Leu
ENST00000440025.1:c.42C>T
ENST00000453593.5:c.3467C>T	ENSP00000392983.1:p.Ser1156Leu
ENST00000467983.1:n.220C>T
NM_000443.3:c.3608C>T	NP_000434.1:p.Ser1203Leu
NM_018849.2:c.3629C>T	NP_061337.1:p.Ser1210Leu
NM_018850.2:c.3467C>T	NP_061338.1:p.Ser1156Leu
XM_011516308.1:c.3629C>T	XP_011514610.1:p.Ser1210Leu
XM_011516309.1:c.3608C>T	XP_011514611.1:p.Ser1203Leu
XM_011516310.1:c.3524C>T	XP_011514612.1:p.Ser1175Leu
XM_011516311.1:c.3500C>T	XP_011514613.1:p.Ser1167Leu
XM_011516312.1:c.3488C>T	XP_011514614.1:p.Ser1163Leu
XM_011516313.1:c.3467C>T	XP_011514615.1:p.Ser1156Leu
XM_011516314.1:c.3650C>T	XP_011514616.1:p.Ser1217Leu
XM_011516315.1:c.2969C>T	XP_011514617.1:p.Ser990Leu
XM_011516308.3:c.3899C>T	XP_011514610.3:p.Ser1300Leu
XM_011516309.3:c.3878C>T	XP_011514611.3:p.Ser1293Leu
XM_011516310.3:c.3794C>T	XP_011514612.3:p.Ser1265Leu
XM_011516311.3:c.3770C>T	XP_011514613.3:p.Ser1257Leu
XM_011516312.3:c.3758C>T	XP_011514614.3:p.Ser1253Leu
XM_011516313.3:c.3737C>T	XP_011514615.2:p.Ser1246Leu
XM_011516315.3:c.2969C>T	XP_011514617.2:p.Ser990Leu
XM_017012323.2:c.3629C>T	XP_016867812.1:p.Ser1210Leu
XR_001744809.2:n.4137C>T
NM_000443.4:c.3608C>T MANE Select	NP_000434.1:p.Ser1203Leu
NM_018849.3:c.3629C>T	NP_061337.1:p.Ser1210Leu
NM_018850.3:c.3467C>T	NP_061338.1:p.Ser1156Leu