Canonical Allele Identifier: CA1723596341

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87439759G= , CM000669.2:g.87439759G=	GRCh38
NC_000007.13:g.87069075G= , CM000669.1:g.87069075G=	GRCh37
NC_000007.12:g.86907011G=	NCBI36
NG_007118.1:g.45674C=
NG_007118.2:g.45674C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.1639C=	ENSP00000352135.3:p.Leu547=
ENST00000643670.1:c.1655C=	ENSP00000496629.1:n.1655C=
ENST00000644106.1:c.*1176C=	ENSP00000493477.1:n.*1176C=
ENST00000649586.2:c.1639C= MANE Select	ENSP00000496956.2:p.Leu547=
ENST00000265723.8:c.1639C=	ENSP00000265723.4:p.Leu547=
ENST00000358400.7:c.1639C=	ENSP00000351172.3:p.Leu547=
ENST00000359206.7:c.1639C=	ENSP00000352135.3:p.Leu547=
ENST00000453593.5:c.1639C=	ENSP00000392983.1:p.Leu547=
NM_000443.3:c.1639C=	NP_000434.1:p.Leu547=
NM_018849.2:c.1639C=	NP_061337.1:p.Leu547=
NM_018850.2:c.1639C=	NP_061338.1:p.Leu547=
XM_011516308.1:c.1639C=	XP_011514610.1:p.Leu547=
XM_011516309.1:c.1639C=	XP_011514611.1:p.Leu547=
XM_011516310.1:c.1639C=	XP_011514612.1:p.Leu547=
XM_011516311.1:c.1639C=	XP_011514613.1:p.Leu547=
XM_011516312.1:c.1639C=	XP_011514614.1:p.Leu547=
XM_011516313.1:c.1639C=	XP_011514615.1:p.Leu547=
XM_011516314.1:c.1660C=	XP_011514616.1:p.Leu554=
XM_011516315.1:c.979C=	XP_011514617.1:p.Leu327=
XR_927478.1:n.1735C=
XM_011516308.3:c.1909C=	XP_011514610.3:p.Leu637=
XM_011516309.3:c.1909C=	XP_011514611.3:p.Leu637=
XM_011516310.3:c.1909C=	XP_011514612.3:p.Leu637=
XM_011516311.3:c.1909C=	XP_011514613.3:p.Leu637=
XM_011516312.3:c.1909C=	XP_011514614.3:p.Leu637=
XM_011516313.3:c.1909C=	XP_011514615.2:p.Leu637=
XM_011516315.3:c.979C=	XP_011514617.2:p.Leu327=
XM_017012323.2:c.1639C=	XP_016867812.1:p.Leu547=
XR_001744809.2:n.2410C=
XR_001744810.2:n.2405C=
NM_000443.4:c.1639C= MANE Select	NP_000434.1:p.Leu547=
NM_018849.3:c.1639C=	NP_061337.1:p.Leu547=
NM_018850.3:c.1639C=	NP_061338.1:p.Leu547=