Canonical Allele Identifier: CA349116925

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923684C>A , CM000664.2:g.168923684C>A	GRCh38
NC_000002.11:g.169780194C>A , CM000664.1:g.169780194C>A	GRCh37
NC_000002.10:g.169488440C>A	NCBI36
NG_007374.1:g.112640G>T
NG_007374.2:g.112713G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3904G>T MANE Select	NP_003733.2:p.Glu1302Ter
ENST00000650372.1:c.3904G>T MANE Select	ENSP00000497931.1:p.Glu1302Ter
NM_003742.2:c.3904G>T	NP_003733.2:p.Glu1302Ter
ENST00000263817.6:c.3904G>T	ENSP00000263817.6:p.Glu1302Ter
ENST00000439188.1:c.2521G>T	ENSP00000416058.1:n.2521G>T
ENST00000648875.1:c.226+973G>T
ENST00000649448.1:c.2281G>T	ENSP00000497165.1:p.Glu761Ter
XM_006712817.2:c.3946G>T	XP_006712880.1:p.Glu1316Ter
XM_006712817.3:c.3946G>T	XP_006712880.1:p.Glu1316Ter
XM_011512077.1:c.4006G>T	XP_011510379.1:p.Glu1336Ter
XM_011512077.2:c.4006G>T	XP_011510379.1:p.Glu1336Ter
XM_011512078.1:c.4006G>T	XP_011510380.1:p.Glu1336Ter
XM_011512078.2:c.4006G>T	XP_011510380.1:p.Glu1336Ter
XM_011512079.1:c.4006G>T	XP_011510381.1:p.Glu1336Ter
XM_011512081.1:c.2230G>T	XP_011510383.1:p.Glu744Ter
XM_011512081.2:c.2230G>T	XP_011510383.1:p.Glu744Ter
XM_017005165.1:c.3867+973G>T	XP_016860654.1:n.3867+973G>T
XM_017005166.1:c.3235G>T	XP_016860655.1:p.Glu1079Ter
XM_017005167.1:c.2689G>T	XP_016860656.1:p.Glu897Ter