Canonical Allele Identifier: CA349106846

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168958051C>T , CM000664.2:g.168958051C>T	GRCh38
NC_000002.11:g.169814561C>T , CM000664.1:g.169814561C>T	GRCh37
NC_000002.10:g.169522807C>T	NCBI36
NG_007374.1:g.78273G>A
NG_007374.2:g.78346G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2256G>A MANE Select	NP_003733.2:p.Trp752Ter
ENST00000650372.1:c.2256G>A MANE Select	ENSP00000497931.1:p.Trp752Ter
NM_003742.2:c.2256G>A	NP_003733.2:p.Trp752Ter
ENST00000263817.6:c.2256G>A	ENSP00000263817.6:p.Trp752Ter
ENST00000439188.1:c.945G>A	ENSP00000416058.1:n.945G>A
ENST00000649448.1:c.573G>A	ENSP00000497165.1:p.Trp191Ter
XM_006712817.2:c.2298G>A	XP_006712880.1:p.Trp766Ter
XM_006712817.3:c.2298G>A	XP_006712880.1:p.Trp766Ter
XM_011512077.1:c.2358G>A	XP_011510379.1:p.Trp786Ter
XM_011512077.2:c.2358G>A	XP_011510379.1:p.Trp786Ter
XM_011512078.1:c.2358G>A	XP_011510380.1:p.Trp786Ter
XM_011512078.2:c.2358G>A	XP_011510380.1:p.Trp786Ter
XM_011512079.1:c.2358G>A	XP_011510381.1:p.Trp786Ter
XM_011512080.1:c.2358G>A	XP_011510382.1:p.Trp786Ter
XM_011512080.2:c.2358G>A	XP_011510382.1:p.Trp786Ter
XM_011512081.1:c.582G>A	XP_011510383.1:p.Trp194Ter
XM_011512081.2:c.582G>A	XP_011510383.1:p.Trp194Ter
XM_017005165.1:c.2358G>A	XP_016860654.1:p.Trp786Ter
XM_017005166.1:c.1587G>A	XP_016860655.1:p.Trp529Ter
XM_017005167.1:c.1041G>A	XP_016860656.1:p.Trp347Ter