Canonical Allele Identifier: CA1723573124

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87411948G= , CM000669.2:g.87411948G=	GRCh38
NC_000007.13:g.87041264G= , CM000669.1:g.87041264G=	GRCh37
NC_000007.12:g.86879200G=	NCBI36
NG_007118.1:g.73485C=
NG_007118.2:g.73485C=

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.2869C= MANE Select	NP_000434.1:p.Arg957=
ENST00000649586.2:c.2869C= MANE Select	ENSP00000496956.2:p.Arg957=
NM_000443.3:c.2869C=	NP_000434.1:p.Arg957=
NM_018849.2:c.2869C=	NP_061337.1:p.Arg957=
NM_018849.3:c.2869C=	NP_061337.1:p.Arg957=
NM_018850.2:c.2783+1669C=	NP_061338.1:n.2783+1669C=
NM_018850.3:c.2783+1669C=	NP_061338.1:n.2783+1669C=
ENST00000265723.8:c.2869C=	ENSP00000265723.4:p.Arg957=
ENST00000358400.7:c.2783+1669C=	ENSP00000351172.3:n.2783+1669C=
ENST00000359206.7:c.2869C=	ENSP00000352135.3:p.Arg957=
ENST00000359206.8:c.2869C=	ENSP00000352135.3:p.Arg957=
ENST00000453593.5:c.2783+1669C=	ENSP00000392983.1:n.2783+1669C=
XM_011516308.1:c.2869C=	XP_011514610.1:p.Arg957=
XM_011516308.3:c.3139C=	XP_011514610.3:p.Arg1047=
XM_011516309.1:c.2869C=	XP_011514611.1:p.Arg957=
XM_011516309.3:c.3139C=	XP_011514611.3:p.Arg1047=
XM_011516310.1:c.2764C=	XP_011514612.1:p.Arg922=
XM_011516310.3:c.3034C=	XP_011514612.3:p.Arg1012=
XM_011516311.1:c.2784-44C=	XP_011514613.1:n.2784-44C=
XM_011516311.3:c.3054-44C=	XP_011514613.3:n.3054-44C=
XM_011516312.1:c.2783+1669C=	XP_011514614.1:n.2783+1669C=
XM_011516312.3:c.3053+1669C=	XP_011514614.3:n.3053+1669C=
XM_011516313.1:c.2783+1669C=	XP_011514615.1:n.2783+1669C=
XM_011516313.3:c.3053+1669C=	XP_011514615.2:n.3053+1669C=
XM_011516314.1:c.2890C=	XP_011514616.1:p.Arg964=
XM_011516315.1:c.2209C=	XP_011514617.1:p.Arg737=
XM_011516315.3:c.2209C=	XP_011514617.2:p.Arg737=
XM_017012323.2:c.2869C=	XP_016867812.1:p.Arg957=
XR_001744809.2:n.3454-2556C=
XR_927478.1:n.2779-2556C=