Canonical Allele Identifier: CA1951009

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168927316C>T , CM000664.2:g.168927316C>T	GRCh38
NC_000002.11:g.169783826C>T , CM000664.1:g.169783826C>T	GRCh37
NC_000002.10:g.169492072C>T	NCBI36
NG_007374.1:g.109008G>A
NG_007374.2:g.109081G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3458G>A MANE Select	NP_003733.2:p.Arg1153His
ENST00000650372.1:c.3458G>A MANE Select	ENSP00000497931.1:p.Arg1153His
NM_003742.2:c.3458G>A	NP_003733.2:p.Arg1153His
ENST00000263817.6:c.3458G>A	ENSP00000263817.6:p.Arg1153His
ENST00000439188.1:c.2101-26G>A	ENSP00000416058.1:n.2101-26G>A
ENST00000649448.1:c.1835G>A	ENSP00000497165.1:p.Arg612His
XM_006712817.2:c.3500G>A	XP_006712880.1:p.Arg1167His
XM_006712817.3:c.3500G>A	XP_006712880.1:p.Arg1167His
XM_011512077.1:c.3560G>A	XP_011510379.1:p.Arg1187His
XM_011512077.2:c.3560G>A	XP_011510379.1:p.Arg1187His
XM_011512078.1:c.3560G>A	XP_011510380.1:p.Arg1187His
XM_011512078.2:c.3560G>A	XP_011510380.1:p.Arg1187His
XM_011512079.1:c.3560G>A	XP_011510381.1:p.Arg1187His
XM_011512081.1:c.1784G>A	XP_011510383.1:p.Arg595His
XM_011512081.2:c.1784G>A	XP_011510383.1:p.Arg595His
XM_017005165.1:c.3560G>A	XP_016860654.1:p.Arg1187His
XM_017005166.1:c.2789G>A	XP_016860655.1:p.Arg930His
XM_017005167.1:c.2243G>A	XP_016860656.1:p.Arg748His