Canonical Allele Identifier: CA1723587142

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402227G= , CM000669.2:g.87402227G=	GRCh38
NC_000007.13:g.87031543G= , CM000669.1:g.87031543G=	GRCh37
NC_000007.12:g.86869479G=	NCBI36
NG_007118.1:g.83206C=
NG_007118.2:g.83206C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3709C=	ENSP00000352135.3:p.Gln1237=
ENST00000649586.2:c.3709C= MANE Select	ENSP00000496956.2:p.Gln1237=
ENST00000265723.8:c.3730C=	ENSP00000265723.4:p.Gln1244=
ENST00000358400.7:c.3568C=	ENSP00000351172.3:p.Gln1190=
ENST00000359206.7:c.3709C=	ENSP00000352135.3:p.Gln1237=
ENST00000440025.1:c.143C=
ENST00000453593.5:c.3568C=	ENSP00000392983.1:p.Gln1190=
ENST00000467983.1:n.321C=
NM_000443.3:c.3709C=	NP_000434.1:p.Gln1237=
NM_018849.2:c.3730C=	NP_061337.1:p.Gln1244=
NM_018850.2:c.3568C=	NP_061338.1:p.Gln1190=
XM_011516308.1:c.3730C=	XP_011514610.1:p.Gln1244=
XM_011516309.1:c.3709C=	XP_011514611.1:p.Gln1237=
XM_011516310.1:c.3625C=	XP_011514612.1:p.Gln1209=
XM_011516311.1:c.3601C=	XP_011514613.1:p.Gln1201=
XM_011516312.1:c.3589C=	XP_011514614.1:p.Gln1197=
XM_011516313.1:c.3568C=	XP_011514615.1:p.Gln1190=
XM_011516314.1:c.3751C=	XP_011514616.1:p.Gln1251=
XM_011516315.1:c.3070C=	XP_011514617.1:p.Gln1024=
XM_011516308.3:c.4000C=	XP_011514610.3:p.Gln1334=
XM_011516309.3:c.3979C=	XP_011514611.3:p.Gln1327=
XM_011516310.3:c.3895C=	XP_011514612.3:p.Gln1299=
XM_011516311.3:c.3871C=	XP_011514613.3:p.Gln1291=
XM_011516312.3:c.3859C=	XP_011514614.3:p.Gln1287=
XM_011516313.3:c.3838C=	XP_011514615.2:p.Gln1280=
XM_011516315.3:c.3070C=	XP_011514617.2:p.Gln1024=
XM_017012323.2:c.3730C=	XP_016867812.1:p.Gln1244=
XR_001744809.2:n.4238C=
NM_000443.4:c.3709C= MANE Select	NP_000434.1:p.Gln1237=
NM_018849.3:c.3730C=	NP_061337.1:p.Gln1244=
NM_018850.3:c.3568C=	NP_061338.1:p.Gln1190=