Canonical Allele Identifier: CA1951196

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168936276G>A , CM000664.2:g.168936276G>A	GRCh38
NC_000002.11:g.169792786G>A , CM000664.1:g.169792786G>A	GRCh37
NC_000002.10:g.169501032G>A	NCBI36
NG_007374.1:g.100048C>T
NG_007374.2:g.100121C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2768C>T MANE Select	NP_003733.2:p.Thr923Ile
ENST00000650372.1:c.2768C>T MANE Select	ENSP00000497931.1:p.Thr923Ile
NM_003742.2:c.2768C>T	NP_003733.2:p.Thr923Ile
ENST00000263817.6:c.2768C>T	ENSP00000263817.6:p.Thr923Ile
ENST00000439188.1:c.1457C>T	ENSP00000416058.1:n.1457C>T
ENST00000649448.1:c.1085C>T	ENSP00000497165.1:p.Thr362Ile
XM_006712817.2:c.2810C>T	XP_006712880.1:p.Thr937Ile
XM_006712817.3:c.2810C>T	XP_006712880.1:p.Thr937Ile
XM_011512077.1:c.2870C>T	XP_011510379.1:p.Thr957Ile
XM_011512077.2:c.2870C>T	XP_011510379.1:p.Thr957Ile
XM_011512078.1:c.2870C>T	XP_011510380.1:p.Thr957Ile
XM_011512078.2:c.2870C>T	XP_011510380.1:p.Thr957Ile
XM_011512079.1:c.2870C>T	XP_011510381.1:p.Thr957Ile
XM_011512080.1:c.2790C>T	XP_011510382.1:p.Asp930=
XM_011512080.2:c.2790C>T	XP_011510382.1:p.Asp930=
XM_011512081.1:c.1094C>T	XP_011510383.1:p.Thr365Ile
XM_011512081.2:c.1094C>T	XP_011510383.1:p.Thr365Ile
XM_017005165.1:c.2870C>T	XP_016860654.1:p.Thr957Ile
XM_017005166.1:c.2099C>T	XP_016860655.1:p.Thr700Ile
XM_017005167.1:c.1553C>T	XP_016860656.1:p.Thr518Ile