Canonical Allele Identifier: CA4326733

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87403180G>A , CM000669.2:g.87403180G>A	GRCh38
NC_000007.13:g.87032496G>A , CM000669.1:g.87032496G>A	GRCh37
NC_000007.12:g.86870432G>A	NCBI36
NG_007118.1:g.82253C>T
NG_007118.2:g.82253C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3588C>T MANE Select	NP_000434.1:p.Leu1196=
ENST00000649586.2:c.3588C>T MANE Select	ENSP00000496956.2:p.Leu1196=
NM_000443.3:c.3588C>T	NP_000434.1:p.Leu1196=
NM_018849.2:c.3609C>T	NP_061337.1:p.Leu1203=
NM_018849.3:c.3609C>T	NP_061337.1:p.Leu1203=
NM_018850.2:c.3447C>T	NP_061338.1:p.Leu1149=
NM_018850.3:c.3447C>T	NP_061338.1:p.Leu1149=
ENST00000265723.8:c.3609C>T	ENSP00000265723.4:p.Leu1203=
ENST00000358400.7:c.3447C>T	ENSP00000351172.3:p.Leu1149=
ENST00000359206.7:c.3588C>T	ENSP00000352135.3:p.Leu1196=
ENST00000359206.8:c.3588C>T	ENSP00000352135.3:p.Leu1196=
ENST00000440025.1:c.22C>T
ENST00000453593.5:c.3447C>T	ENSP00000392983.1:p.Leu1149=
ENST00000467983.1:n.200C>T
XM_011516308.1:c.3609C>T	XP_011514610.1:p.Leu1203=
XM_011516308.3:c.3879C>T	XP_011514610.3:p.Leu1293=
XM_011516309.1:c.3588C>T	XP_011514611.1:p.Leu1196=
XM_011516309.3:c.3858C>T	XP_011514611.3:p.Leu1286=
XM_011516310.1:c.3504C>T	XP_011514612.1:p.Leu1168=
XM_011516310.3:c.3774C>T	XP_011514612.3:p.Leu1258=
XM_011516311.1:c.3480C>T	XP_011514613.1:p.Leu1160=
XM_011516311.3:c.3750C>T	XP_011514613.3:p.Leu1250=
XM_011516312.1:c.3468C>T	XP_011514614.1:p.Leu1156=
XM_011516312.3:c.3738C>T	XP_011514614.3:p.Leu1246=
XM_011516313.1:c.3447C>T	XP_011514615.1:p.Leu1149=
XM_011516313.3:c.3717C>T	XP_011514615.2:p.Leu1239=
XM_011516314.1:c.3630C>T	XP_011514616.1:p.Leu1210=
XM_011516315.1:c.2949C>T	XP_011514617.1:p.Leu983=
XM_011516315.3:c.2949C>T	XP_011514617.2:p.Leu983=
XM_017012323.2:c.3609C>T	XP_016867812.1:p.Leu1203=
XR_001744809.2:n.4117C>T