Canonical Allele Identifier: CA456356269

Gene: ABCB4

Linked Data

• MyVariant Identifiers: chr7:g.87031550G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87402234G>A , CM000669.2:g.87402234G>A	GRCh38
NC_000007.13:g.87031550G>A , CM000669.1:g.87031550G>A	GRCh37
NC_000007.12:g.86869486G>A	NCBI36
NG_007118.1:g.83199C>T
NG_007118.2:g.83199C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000359206.8:c.3702C>T	ENSP00000352135.3:p.Ser1234=
ENST00000649586.2:c.3702C>T MANE Select	ENSP00000496956.2:p.Ser1234=
ENST00000265723.8:c.3723C>T	ENSP00000265723.4:p.Ser1241=
ENST00000358400.7:c.3561C>T	ENSP00000351172.3:p.Ser1187=
ENST00000359206.7:c.3702C>T	ENSP00000352135.3:p.Ser1234=
ENST00000440025.1:c.136C>T
ENST00000453593.5:c.3561C>T	ENSP00000392983.1:p.Ser1187=
ENST00000467983.1:n.314C>T
NM_000443.3:c.3702C>T	NP_000434.1:p.Ser1234=
NM_018849.2:c.3723C>T	NP_061337.1:p.Ser1241=
NM_018850.2:c.3561C>T	NP_061338.1:p.Ser1187=
XM_011516308.1:c.3723C>T	XP_011514610.1:p.Ser1241=
XM_011516309.1:c.3702C>T	XP_011514611.1:p.Ser1234=
XM_011516310.1:c.3618C>T	XP_011514612.1:p.Ser1206=
XM_011516311.1:c.3594C>T	XP_011514613.1:p.Ser1198=
XM_011516312.1:c.3582C>T	XP_011514614.1:p.Ser1194=
XM_011516313.1:c.3561C>T	XP_011514615.1:p.Ser1187=
XM_011516314.1:c.3744C>T	XP_011514616.1:p.Ser1248=
XM_011516315.1:c.3063C>T	XP_011514617.1:p.Ser1021=
XM_011516308.3:c.3993C>T	XP_011514610.3:p.Ser1331=
XM_011516309.3:c.3972C>T	XP_011514611.3:p.Ser1324=
XM_011516310.3:c.3888C>T	XP_011514612.3:p.Ser1296=
XM_011516311.3:c.3864C>T	XP_011514613.3:p.Ser1288=
XM_011516312.3:c.3852C>T	XP_011514614.3:p.Ser1284=
XM_011516313.3:c.3831C>T	XP_011514615.2:p.Ser1277=
XM_011516315.3:c.3063C>T	XP_011514617.2:p.Ser1021=
XM_017012323.2:c.3723C>T	XP_016867812.1:p.Ser1241=
XR_001744809.2:n.4231C>T
NM_000443.4:c.3702C>T MANE Select	NP_000434.1:p.Ser1234=
NM_018849.3:c.3723C>T	NP_061337.1:p.Ser1241=
NM_018850.3:c.3561C>T	NP_061338.1:p.Ser1187=