Canonical Allele Identifier: CA1723587116

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402211A= , CM000669.2:g.87402211A=	GRCh38
NC_000007.13:g.87031527A= , CM000669.1:g.87031527A=	GRCh37
NC_000007.12:g.86869463A=	NCBI36
NG_007118.1:g.83222T=
NG_007118.2:g.83222T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3725T=	ENSP00000352135.3:p.Ile1242=
ENST00000649586.2:c.3725T= MANE Select	ENSP00000496956.2:p.Ile1242=
ENST00000265723.8:c.3746T=	ENSP00000265723.4:p.Ile1249=
ENST00000358400.7:c.3584T=	ENSP00000351172.3:p.Ile1195=
ENST00000359206.7:c.3725T=	ENSP00000352135.3:p.Ile1242=
ENST00000440025.1:c.159T=
ENST00000453593.5:c.3584T=	ENSP00000392983.1:p.Ile1195=
ENST00000467983.1:n.337T=
NM_000443.3:c.3725T=	NP_000434.1:p.Ile1242=
NM_018849.2:c.3746T=	NP_061337.1:p.Ile1249=
NM_018850.2:c.3584T=	NP_061338.1:p.Ile1195=
XM_011516308.1:c.3746T=	XP_011514610.1:p.Ile1249=
XM_011516309.1:c.3725T=	XP_011514611.1:p.Ile1242=
XM_011516310.1:c.3641T=	XP_011514612.1:p.Ile1214=
XM_011516311.1:c.3617T=	XP_011514613.1:p.Ile1206=
XM_011516312.1:c.3605T=	XP_011514614.1:p.Ile1202=
XM_011516313.1:c.3584T=	XP_011514615.1:p.Ile1195=
XM_011516314.1:c.3767T=	XP_011514616.1:p.Ile1256=
XM_011516315.1:c.3086T=	XP_011514617.1:p.Ile1029=
XM_011516308.3:c.4016T=	XP_011514610.3:p.Ile1339=
XM_011516309.3:c.3995T=	XP_011514611.3:p.Ile1332=
XM_011516310.3:c.3911T=	XP_011514612.3:p.Ile1304=
XM_011516311.3:c.3887T=	XP_011514613.3:p.Ile1296=
XM_011516312.3:c.3875T=	XP_011514614.3:p.Ile1292=
XM_011516313.3:c.3854T=	XP_011514615.2:p.Ile1285=
XM_011516315.3:c.3086T=	XP_011514617.2:p.Ile1029=
XM_017012323.2:c.3746T=	XP_016867812.1:p.Ile1249=
XR_001744809.2:n.4254T=
NM_000443.4:c.3725T= MANE Select	NP_000434.1:p.Ile1242=
NM_018849.3:c.3746T=	NP_061337.1:p.Ile1249=
NM_018850.3:c.3584T=	NP_061338.1:p.Ile1195=