Canonical Allele Identifier: CA456357095

Gene: ABCB4

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.87408040T>C , CM000669.2:g.87408040T>C	GRCh38
NC_000007.13:g.87037356T>C , CM000669.1:g.87037356T>C	GRCh37
NC_000007.12:g.86875292T>C	NCBI36
NG_007118.1:g.77393A>G
NG_007118.2:g.77393A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000443.4:c.3276A>G MANE Select	NP_000434.1:p.Thr1092=
ENST00000649586.2:c.3276A>G MANE Select	ENSP00000496956.2:p.Thr1092=
NM_000443.3:c.3276A>G	NP_000434.1:p.Thr1092=
NM_018849.2:c.3276A>G	NP_061337.1:p.Thr1092=
NM_018849.3:c.3276A>G	NP_061337.1:p.Thr1092=
NM_018850.2:c.3135A>G	NP_061338.1:p.Thr1045=
NM_018850.3:c.3135A>G	NP_061338.1:p.Thr1045=
ENST00000265723.8:c.3276A>G	ENSP00000265723.4:p.Thr1092=
ENST00000358400.7:c.3135A>G	ENSP00000351172.3:p.Thr1045=
ENST00000359206.7:c.3276A>G	ENSP00000352135.3:p.Thr1092=
ENST00000359206.8:c.3276A>G	ENSP00000352135.3:p.Thr1092=
ENST00000453593.5:c.3135A>G	ENSP00000392983.1:p.Thr1045=
ENST00000467079.1:n.195A>G
XM_011516308.1:c.3276A>G	XP_011514610.1:p.Thr1092=
XM_011516308.3:c.3546A>G	XP_011514610.3:p.Thr1182=
XM_011516309.1:c.3276A>G	XP_011514611.1:p.Thr1092=
XM_011516309.3:c.3546A>G	XP_011514611.3:p.Thr1182=
XM_011516310.1:c.3171A>G	XP_011514612.1:p.Thr1057=
XM_011516310.3:c.3441A>G	XP_011514612.3:p.Thr1147=
XM_011516311.1:c.3147A>G	XP_011514613.1:p.Thr1049=
XM_011516311.3:c.3417A>G	XP_011514613.3:p.Thr1139=
XM_011516312.1:c.3135A>G	XP_011514614.1:p.Thr1045=
XM_011516312.3:c.3405A>G	XP_011514614.3:p.Thr1135=
XM_011516313.1:c.3135A>G	XP_011514615.1:p.Thr1045=
XM_011516313.3:c.3405A>G	XP_011514615.2:p.Thr1135=
XM_011516314.1:c.3297A>G	XP_011514616.1:p.Thr1099=
XM_011516315.1:c.2616A>G	XP_011514617.1:p.Thr872=
XM_011516315.3:c.2616A>G	XP_011514617.2:p.Thr872=
XM_017012323.2:c.3276A>G	XP_016867812.1:p.Thr1092=
XR_001744809.2:n.3805A>G
XR_927478.1:n.3130A>G