Canonical Allele Identifier: CA456356893

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87406393G>C , CM000669.2:g.87406393G>C	GRCh38
NC_000007.13:g.87035709G>C , CM000669.1:g.87035709G>C	GRCh37
NC_000007.12:g.86873645G>C	NCBI36
NG_007118.1:g.79040C>G
NG_007118.2:g.79040C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3381C>G	ENSP00000352135.3:p.Ala1127=
ENST00000649586.2:c.3381C>G MANE Select	ENSP00000496956.2:p.Ala1127=
ENST00000265723.8:c.3402C>G	ENSP00000265723.4:p.Ala1134=
ENST00000358400.7:c.3240C>G	ENSP00000351172.3:p.Ala1080=
ENST00000359206.7:c.3381C>G	ENSP00000352135.3:p.Ala1127=
ENST00000453593.5:c.3240C>G	ENSP00000392983.1:p.Ala1080=
ENST00000467079.1:n.321C>G
NM_000443.3:c.3381C>G	NP_000434.1:p.Ala1127=
NM_018849.2:c.3402C>G	NP_061337.1:p.Ala1134=
NM_018850.2:c.3240C>G	NP_061338.1:p.Ala1080=
XM_011516308.1:c.3402C>G	XP_011514610.1:p.Ala1134=
XM_011516309.1:c.3381C>G	XP_011514611.1:p.Ala1127=
XM_011516310.1:c.3297C>G	XP_011514612.1:p.Ala1099=
XM_011516311.1:c.3273C>G	XP_011514613.1:p.Ala1091=
XM_011516312.1:c.3261C>G	XP_011514614.1:p.Ala1087=
XM_011516313.1:c.3240C>G	XP_011514615.1:p.Ala1080=
XM_011516314.1:c.3423C>G	XP_011514616.1:p.Ala1141=
XM_011516315.1:c.2742C>G	XP_011514617.1:p.Ala914=
XR_927478.1:n.3235C>G
XM_011516308.3:c.3672C>G	XP_011514610.3:p.Ala1224=
XM_011516309.3:c.3651C>G	XP_011514611.3:p.Ala1217=
XM_011516310.3:c.3567C>G	XP_011514612.3:p.Ala1189=
XM_011516311.3:c.3543C>G	XP_011514613.3:p.Ala1181=
XM_011516312.3:c.3531C>G	XP_011514614.3:p.Ala1177=
XM_011516313.3:c.3510C>G	XP_011514615.2:p.Ala1170=
XM_011516315.3:c.2742C>G	XP_011514617.2:p.Ala914=
XM_017012323.2:c.3402C>G	XP_016867812.1:p.Ala1134=
XR_001744809.2:n.3910C>G
NM_000443.4:c.3381C>G MANE Select	NP_000434.1:p.Ala1127=
NM_018849.3:c.3402C>G	NP_061337.1:p.Ala1134=
NM_018850.3:c.3240C>G	NP_061338.1:p.Ala1080=