Canonical Allele Identifier: CA429912658

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924753C>T , CM000664.2:g.168924753C>T	GRCh38
NC_000002.11:g.169781263C>T , CM000664.1:g.169781263C>T	GRCh37
NC_000002.10:g.169489509C>T	NCBI36
NG_007374.1:g.111571G>A
NG_007374.2:g.111644G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.130G>A
ENST00000649448.1:c.2046G>A	ENSP00000497165.1:p.Glu682=
ENST00000650372.1:c.3669G>A MANE Select	ENSP00000497931.1:p.Glu1223=
ENST00000263817.6:c.3669G>A	ENSP00000263817.6:p.Glu1223=
ENST00000439188.1:c.2286G>A	ENSP00000416058.1:n.2286G>A
NM_003742.2:c.3669G>A	NP_003733.2:p.Glu1223=
XM_006712817.2:c.3711G>A	XP_006712880.1:p.Glu1237=
XM_011512077.1:c.3771G>A	XP_011510379.1:p.Glu1257=
XM_011512078.1:c.3771G>A	XP_011510380.1:p.Glu1257=
XM_011512079.1:c.3771G>A	XP_011510381.1:p.Glu1257=
XM_011512081.1:c.1995G>A	XP_011510383.1:p.Glu665=
NM_003742.4:c.3669G>A MANE Select	NP_003733.2:p.Glu1223=
XM_006712817.3:c.3711G>A	XP_006712880.1:p.Glu1237=
XM_011512077.2:c.3771G>A	XP_011510379.1:p.Glu1257=
XM_011512078.2:c.3771G>A	XP_011510380.1:p.Glu1257=
XM_011512081.2:c.1995G>A	XP_011510383.1:p.Glu665=
XM_017005165.1:c.3771G>A	XP_016860654.1:p.Glu1257=
XM_017005166.1:c.3000G>A	XP_016860655.1:p.Glu1000=
XM_017005167.1:c.2454G>A	XP_016860656.1:p.Glu818=