Canonical Allele Identifier: CA4326786

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87406438G>A , CM000669.2:g.87406438G>A	GRCh38
NC_000007.13:g.87035754G>A , CM000669.1:g.87035754G>A	GRCh37
NC_000007.12:g.86873690G>A	NCBI36
NG_007118.1:g.78995C>T
NG_007118.2:g.78995C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3336C>T MANE Select	NP_000434.1:p.Leu1112=
ENST00000649586.2:c.3336C>T MANE Select	ENSP00000496956.2:p.Leu1112=
NM_000443.3:c.3336C>T	NP_000434.1:p.Leu1112=
NM_018849.2:c.3357C>T	NP_061337.1:p.Leu1119=
NM_018849.3:c.3357C>T	NP_061337.1:p.Leu1119=
NM_018850.2:c.3195C>T	NP_061338.1:p.Leu1065=
NM_018850.3:c.3195C>T	NP_061338.1:p.Leu1065=
ENST00000265723.8:c.3357C>T	ENSP00000265723.4:p.Leu1119=
ENST00000358400.7:c.3195C>T	ENSP00000351172.3:p.Leu1065=
ENST00000359206.7:c.3336C>T	ENSP00000352135.3:p.Leu1112=
ENST00000359206.8:c.3336C>T	ENSP00000352135.3:p.Leu1112=
ENST00000453593.5:c.3195C>T	ENSP00000392983.1:p.Leu1065=
ENST00000467079.1:n.276C>T
XM_011516308.1:c.3357C>T	XP_011514610.1:p.Leu1119=
XM_011516308.3:c.3627C>T	XP_011514610.3:p.Leu1209=
XM_011516309.1:c.3336C>T	XP_011514611.1:p.Leu1112=
XM_011516309.3:c.3606C>T	XP_011514611.3:p.Leu1202=
XM_011516310.1:c.3252C>T	XP_011514612.1:p.Leu1084=
XM_011516310.3:c.3522C>T	XP_011514612.3:p.Leu1174=
XM_011516311.1:c.3228C>T	XP_011514613.1:p.Leu1076=
XM_011516311.3:c.3498C>T	XP_011514613.3:p.Leu1166=
XM_011516312.1:c.3216C>T	XP_011514614.1:p.Leu1072=
XM_011516312.3:c.3486C>T	XP_011514614.3:p.Leu1162=
XM_011516313.1:c.3195C>T	XP_011514615.1:p.Leu1065=
XM_011516313.3:c.3465C>T	XP_011514615.2:p.Leu1155=
XM_011516314.1:c.3378C>T	XP_011514616.1:p.Leu1126=
XM_011516315.1:c.2697C>T	XP_011514617.1:p.Leu899=
XM_011516315.3:c.2697C>T	XP_011514617.2:p.Leu899=
XM_017012323.2:c.3357C>T	XP_016867812.1:p.Leu1119=
XR_001744809.2:n.3865C>T
XR_927478.1:n.3190C>T