Canonical Allele Identifier: CA1950966

Gene: ABCB11

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3669G>C MANE Select	NP_003733.2:p.Glu1223Asp
ENST00000650372.1:c.3669G>C MANE Select	ENSP00000497931.1:p.Glu1223Asp
NM_003742.2:c.3669G>C	NP_003733.2:p.Glu1223Asp
ENST00000263817.6:c.3669G>C	ENSP00000263817.6:p.Glu1223Asp
ENST00000439188.1:c.2286G>C	ENSP00000416058.1:n.2286G>C
ENST00000648875.1:c.130G>C
ENST00000649448.1:c.2046G>C	ENSP00000497165.1:p.Glu682Asp
XM_006712817.2:c.3711G>C	XP_006712880.1:p.Glu1237Asp
XM_006712817.3:c.3711G>C	XP_006712880.1:p.Glu1237Asp
XM_011512077.1:c.3771G>C	XP_011510379.1:p.Glu1257Asp
XM_011512077.2:c.3771G>C	XP_011510379.1:p.Glu1257Asp
XM_011512078.1:c.3771G>C	XP_011510380.1:p.Glu1257Asp
XM_011512078.2:c.3771G>C	XP_011510380.1:p.Glu1257Asp
XM_011512079.1:c.3771G>C	XP_011510381.1:p.Glu1257Asp
XM_011512081.1:c.1995G>C	XP_011510383.1:p.Glu665Asp
XM_011512081.2:c.1995G>C	XP_011510383.1:p.Glu665Asp
XM_017005165.1:c.3771G>C	XP_016860654.1:p.Glu1257Asp
XM_017005166.1:c.3000G>C	XP_016860655.1:p.Glu1000Asp
XM_017005167.1:c.2454G>C	XP_016860656.1:p.Glu818Asp