Canonical Allele Identifier: CA1723573170
Gene: ABCB4 HGNC NCBI

Linked Data

dbSNP Id: rs1808655807

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87411970dup , CM000669.2:g.87411970dup GRCh38
NC_000007.13:g.87041286dup , CM000669.1:g.87041286dup GRCh37
NC_000007.12:g.86879222dup NCBI36
NG_007118.1:g.73467dup
NG_007118.2:g.73467dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000359206.8:c.2851dup ENSP00000352135.3:p.Ser951PhefsTer?
ENST00000649586.2:c.2851dup MANE Select ENSP00000496956.2:p.Ser951PhefsTer?
ENST00000265723.8:c.2851dup ENSP00000265723.4:p.Ser951PhefsTer?
ENST00000358400.7:c.2783+1651dup ENSP00000351172.3:n.2783+1651dup
ENST00000359206.7:c.2851dup ENSP00000352135.3:p.Ser951PhefsTer?
ENST00000453593.5:c.2783+1651dup ENSP00000392983.1:n.2783+1651dup
NM_000443.3:c.2851dup NP_000434.1:p.Ser951PhefsTer?
NM_018849.2:c.2851dup NP_061337.1:p.Ser951PhefsTer?
NM_018850.2:c.2783+1651dup NP_061338.1:n.2783+1651dup
XM_011516308.1:c.2851dup XP_011514610.1:p.Ser951PhefsTer?
XM_011516309.1:c.2851dup XP_011514611.1:p.Ser951PhefsTer?
XM_011516310.1:c.2746dup XP_011514612.1:p.Ser916PhefsTer?
XM_011516311.1:c.2784-62dup XP_011514613.1:n.2784-62dup
XM_011516312.1:c.2783+1651dup XP_011514614.1:n.2783+1651dup
XM_011516313.1:c.2783+1651dup XP_011514615.1:n.2783+1651dup
XM_011516314.1:c.2872dup XP_011514616.1:p.Ser958PhefsTer?
XM_011516315.1:c.2191dup XP_011514617.1:p.Ser731PhefsTer?
XR_927478.1:n.2779-2574dup
XM_011516308.3:c.3121dup XP_011514610.3:p.Ser1041PhefsTer?
XM_011516309.3:c.3121dup XP_011514611.3:p.Ser1041PhefsTer?
XM_011516310.3:c.3016dup XP_011514612.3:p.Ser1006PhefsTer?
XM_011516311.3:c.3054-62dup XP_011514613.3:n.3054-62dup
XM_011516312.3:c.3053+1651dup XP_011514614.3:n.3053+1651dup
XM_011516313.3:c.3053+1651dup XP_011514615.2:n.3053+1651dup
XM_011516315.3:c.2191dup XP_011514617.2:p.Ser731PhefsTer?
XM_017012323.2:c.2851dup XP_016867812.1:p.Ser951PhefsTer?
XR_001744809.2:n.3454-2574dup
NM_000443.4:c.2851dup MANE Select NP_000434.1:p.Ser951PhefsTer?
NM_018849.3:c.2851dup NP_061337.1:p.Ser951PhefsTer?
NM_018850.3:c.2783+1651dup NP_061338.1:n.2783+1651dup