Canonical Allele Identifier: CA1723587130

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402213T= , CM000669.2:g.87402213T=	GRCh38
NC_000007.13:g.87031529T= , CM000669.1:g.87031529T=	GRCh37
NC_000007.12:g.86869465T=	NCBI36
NG_007118.1:g.83220A=
NG_007118.2:g.83220A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3723A=	ENSP00000352135.3:p.Leu1241=
ENST00000649586.2:c.3723A= MANE Select	ENSP00000496956.2:p.Leu1241=
ENST00000265723.8:c.3744A=	ENSP00000265723.4:p.Leu1248=
ENST00000358400.7:c.3582A=	ENSP00000351172.3:p.Leu1194=
ENST00000359206.7:c.3723A=	ENSP00000352135.3:p.Leu1241=
ENST00000440025.1:c.157A=
ENST00000453593.5:c.3582A=	ENSP00000392983.1:p.Leu1194=
ENST00000467983.1:n.335A=
NM_000443.3:c.3723A=	NP_000434.1:p.Leu1241=
NM_018849.2:c.3744A=	NP_061337.1:p.Leu1248=
NM_018850.2:c.3582A=	NP_061338.1:p.Leu1194=
XM_011516308.1:c.3744A=	XP_011514610.1:p.Leu1248=
XM_011516309.1:c.3723A=	XP_011514611.1:p.Leu1241=
XM_011516310.1:c.3639A=	XP_011514612.1:p.Leu1213=
XM_011516311.1:c.3615A=	XP_011514613.1:p.Leu1205=
XM_011516312.1:c.3603A=	XP_011514614.1:p.Leu1201=
XM_011516313.1:c.3582A=	XP_011514615.1:p.Leu1194=
XM_011516314.1:c.3765A=	XP_011514616.1:p.Leu1255=
XM_011516315.1:c.3084A=	XP_011514617.1:p.Leu1028=
XM_011516308.3:c.4014A=	XP_011514610.3:p.Leu1338=
XM_011516309.3:c.3993A=	XP_011514611.3:p.Leu1331=
XM_011516310.3:c.3909A=	XP_011514612.3:p.Leu1303=
XM_011516311.3:c.3885A=	XP_011514613.3:p.Leu1295=
XM_011516312.3:c.3873A=	XP_011514614.3:p.Leu1291=
XM_011516313.3:c.3852A=	XP_011514615.2:p.Leu1284=
XM_011516315.3:c.3084A=	XP_011514617.2:p.Leu1028=
XM_017012323.2:c.3744A=	XP_016867812.1:p.Leu1248=
XR_001744809.2:n.4252A=
NM_000443.4:c.3723A= MANE Select	NP_000434.1:p.Leu1241=
NM_018849.3:c.3744A=	NP_061337.1:p.Leu1248=
NM_018850.3:c.3582A=	NP_061338.1:p.Leu1194=