Canonical Allele Identifier: CA10605868
Gene: ABCB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 287778
ClinVar RCV Id: RCV000335504
dbSNP Id: rs886043725

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87417368T>A , CM000669.2:g.87417368T>A GRCh38
NC_000007.13:g.87046684T>A , CM000669.1:g.87046684T>A GRCh37
NC_000007.12:g.86884620T>A NCBI36
NG_007118.1:g.68065A>T
NG_007118.2:g.68065A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000359206.8:c.2626A>T ENSP00000352135.3:p.Lys876Ter
ENST00000649586.2:c.2626A>T MANE Select ENSP00000496956.2:p.Lys876Ter
ENST00000265723.8:c.2626A>T ENSP00000265723.4:p.Lys876Ter
ENST00000358400.7:c.2626A>T ENSP00000351172.3:p.Lys876Ter
ENST00000359206.7:c.2626A>T ENSP00000352135.3:p.Lys876Ter
ENST00000453593.5:c.2626A>T ENSP00000392983.1:p.Lys876Ter
NM_000443.3:c.2626A>T NP_000434.1:p.Lys876Ter
NM_018849.2:c.2626A>T NP_061337.1:p.Lys876Ter
NM_018850.2:c.2626A>T NP_061338.1:p.Lys876Ter
XM_011516308.1:c.2626A>T XP_011514610.1:p.Lys876Ter
XM_011516309.1:c.2626A>T XP_011514611.1:p.Lys876Ter
XM_011516310.1:c.2521A>T XP_011514612.1:p.Lys841Ter
XM_011516311.1:c.2626A>T XP_011514613.1:p.Lys876Ter
XM_011516312.1:c.2626A>T XP_011514614.1:p.Lys876Ter
XM_011516313.1:c.2626A>T XP_011514615.1:p.Lys876Ter
XM_011516314.1:c.2647A>T XP_011514616.1:p.Lys883Ter
XM_011516315.1:c.1966A>T XP_011514617.1:p.Lys656Ter
XR_927478.1:n.2722A>T
XM_011516308.3:c.2896A>T XP_011514610.3:p.Lys966Ter
XM_011516309.3:c.2896A>T XP_011514611.3:p.Lys966Ter
XM_011516310.3:c.2791A>T XP_011514612.3:p.Lys931Ter
XM_011516311.3:c.2896A>T XP_011514613.3:p.Lys966Ter
XM_011516312.3:c.2896A>T XP_011514614.3:p.Lys966Ter
XM_011516313.3:c.2896A>T XP_011514615.2:p.Lys966Ter
XM_011516315.3:c.1966A>T XP_011514617.2:p.Lys656Ter
XM_017012323.2:c.2626A>T XP_016867812.1:p.Lys876Ter
XR_001744809.2:n.3397A>T
NM_000443.4:c.2626A>T MANE Select NP_000434.1:p.Lys876Ter
NM_018849.3:c.2626A>T NP_061337.1:p.Lys876Ter
NM_018850.3:c.2626A>T NP_061338.1:p.Lys876Ter