Canonical Allele Identifier: CA10605749

Gene: ABCB4

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3608C>G	ENSP00000352135.3:p.Ser1203Ter
ENST00000649586.2:c.3608C>G MANE Select	ENSP00000496956.2:p.Ser1203Ter
ENST00000265723.8:c.3629C>G	ENSP00000265723.4:p.Ser1210Ter
ENST00000358400.7:c.3467C>G	ENSP00000351172.3:p.Ser1156Ter
ENST00000359206.7:c.3608C>G	ENSP00000352135.3:p.Ser1203Ter
ENST00000440025.1:c.42C>G
ENST00000453593.5:c.3467C>G	ENSP00000392983.1:p.Ser1156Ter
ENST00000467983.1:n.220C>G
NM_000443.3:c.3608C>G	NP_000434.1:p.Ser1203Ter
NM_018849.2:c.3629C>G	NP_061337.1:p.Ser1210Ter
NM_018850.2:c.3467C>G	NP_061338.1:p.Ser1156Ter
XM_011516308.1:c.3629C>G	XP_011514610.1:p.Ser1210Ter
XM_011516309.1:c.3608C>G	XP_011514611.1:p.Ser1203Ter
XM_011516310.1:c.3524C>G	XP_011514612.1:p.Ser1175Ter
XM_011516311.1:c.3500C>G	XP_011514613.1:p.Ser1167Ter
XM_011516312.1:c.3488C>G	XP_011514614.1:p.Ser1163Ter
XM_011516313.1:c.3467C>G	XP_011514615.1:p.Ser1156Ter
XM_011516314.1:c.3650C>G	XP_011514616.1:p.Ser1217Ter
XM_011516315.1:c.2969C>G	XP_011514617.1:p.Ser990Ter
XM_011516308.3:c.3899C>G	XP_011514610.3:p.Ser1300Ter
XM_011516309.3:c.3878C>G	XP_011514611.3:p.Ser1293Ter
XM_011516310.3:c.3794C>G	XP_011514612.3:p.Ser1265Ter
XM_011516311.3:c.3770C>G	XP_011514613.3:p.Ser1257Ter
XM_011516312.3:c.3758C>G	XP_011514614.3:p.Ser1253Ter
XM_011516313.3:c.3737C>G	XP_011514615.2:p.Ser1246Ter
XM_011516315.3:c.2969C>G	XP_011514617.2:p.Ser990Ter
XM_017012323.2:c.3629C>G	XP_016867812.1:p.Ser1210Ter
XR_001744809.2:n.4137C>G
NM_000443.4:c.3608C>G MANE Select	NP_000434.1:p.Ser1203Ter
NM_018849.3:c.3629C>G	NP_061337.1:p.Ser1210Ter
NM_018850.3:c.3467C>G	NP_061338.1:p.Ser1156Ter