Canonical Allele Identifier: CA1950905

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923682T>C , CM000664.2:g.168923682T>C	GRCh38
NC_000002.11:g.169780192T>C , CM000664.1:g.169780192T>C	GRCh37
NC_000002.10:g.169488438T>C	NCBI36
NG_007374.1:g.112642A>G
NG_007374.2:g.112715A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+975A>G
ENST00000649448.1:c.2283A>G	ENSP00000497165.1:p.Glu761=
ENST00000650372.1:c.3906A>G MANE Select	ENSP00000497931.1:p.Glu1302=
ENST00000263817.6:c.3906A>G	ENSP00000263817.6:p.Glu1302=
ENST00000439188.1:c.2523A>G	ENSP00000416058.1:n.2523A>G
NM_003742.2:c.3906A>G	NP_003733.2:p.Glu1302=
XM_006712817.2:c.3948A>G	XP_006712880.1:p.Glu1316=
XM_011512077.1:c.4008A>G	XP_011510379.1:p.Glu1336=
XM_011512078.1:c.4008A>G	XP_011510380.1:p.Glu1336=
XM_011512079.1:c.4008A>G	XP_011510381.1:p.Glu1336=
XM_011512081.1:c.2232A>G	XP_011510383.1:p.Glu744=
NM_003742.4:c.3906A>G MANE Select	NP_003733.2:p.Glu1302=
XM_006712817.3:c.3948A>G	XP_006712880.1:p.Glu1316=
XM_011512077.2:c.4008A>G	XP_011510379.1:p.Glu1336=
XM_011512078.2:c.4008A>G	XP_011510380.1:p.Glu1336=
XM_011512081.2:c.2232A>G	XP_011510383.1:p.Glu744=
XM_017005165.1:c.3867+975A>G	XP_016860654.1:n.3867+975A>G
XM_017005166.1:c.3237A>G	XP_016860655.1:p.Glu1079=
XM_017005167.1:c.2691A>G	XP_016860656.1:p.Glu897=