Canonical Allele Identifier: CA1723579476
Community Standard Title: NM_000443.4(ABCB4):c.431G= (p.Arg144=)
Gene: ABCB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.87453049C= , CM000669.2:g.87453049C= GRCh38
NC_000007.13:g.87082365C= , CM000669.1:g.87082365C= GRCh37
NC_000007.12:g.86920301C= NCBI36
NG_007118.1:g.32384G=
NG_007118.2:g.32384G=

Transcript Alleles

HGVS Amino-acid Change
NM_000443.4:c.431G= MANE Select NP_000434.1:p.Arg144=
ENST00000649586.2:c.431G= MANE Select ENSP00000496956.2:p.Arg144=
NM_000443.3:c.431G= NP_000434.1:p.Arg144=
NM_018849.2:c.431G= NP_061337.1:p.Arg144=
NM_018849.3:c.431G= NP_061337.1:p.Arg144=
NM_018850.2:c.431G= NP_061338.1:p.Arg144=
NM_018850.3:c.431G= NP_061338.1:p.Arg144=
ENST00000265723.8:c.431G= ENSP00000265723.4:p.Arg144=
ENST00000358400.7:c.431G= ENSP00000351172.3:p.Arg144=
ENST00000359206.7:c.431G= ENSP00000352135.3:p.Arg144=
ENST00000359206.8:c.431G= ENSP00000352135.3:p.Arg144=
ENST00000453593.5:c.431G= ENSP00000392983.1:p.Arg144=
ENST00000473795.1:n.438G=
ENST00000643670.1:c.374G= ENSP00000496629.1:p.Arg125=
ENST00000644106.1:c.431G= ENSP00000493477.1:p.Arg144=
XM_011516308.1:c.431G= XP_011514610.1:p.Arg144=
XM_011516308.3:c.701G= XP_011514610.3:p.Arg234=
XM_011516309.1:c.431G= XP_011514611.1:p.Arg144=
XM_011516309.3:c.701G= XP_011514611.3:p.Arg234=
XM_011516310.1:c.431G= XP_011514612.1:p.Arg144=
XM_011516310.3:c.701G= XP_011514612.3:p.Arg234=
XM_011516311.1:c.431G= XP_011514613.1:p.Arg144=
XM_011516311.3:c.701G= XP_011514613.3:p.Arg234=
XM_011516312.1:c.431G= XP_011514614.1:p.Arg144=
XM_011516312.3:c.701G= XP_011514614.3:p.Arg234=
XM_011516313.1:c.431G= XP_011514615.1:p.Arg144=
XM_011516313.3:c.701G= XP_011514615.2:p.Arg234=
XM_011516314.1:c.452G= XP_011514616.1:p.Arg151=
XM_017012323.2:c.431G= XP_016867812.1:p.Arg144=
XR_001744809.2:n.1202G=
XR_001744810.2:n.1197G=
XR_927478.1:n.527G=