Canonical Allele Identifier: CA429912389

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923685T>C , CM000664.2:g.168923685T>C	GRCh38
NC_000002.11:g.169780195T>C , CM000664.1:g.169780195T>C	GRCh37
NC_000002.10:g.169488441T>C	NCBI36
NG_007374.1:g.112639A>G
NG_007374.2:g.112712A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+972A>G
ENST00000649448.1:c.2280A>G	ENSP00000497165.1:p.Glu760=
ENST00000650372.1:c.3903A>G MANE Select	ENSP00000497931.1:p.Glu1301=
ENST00000263817.6:c.3903A>G	ENSP00000263817.6:p.Glu1301=
ENST00000439188.1:c.2520A>G	ENSP00000416058.1:n.2520A>G
NM_003742.2:c.3903A>G	NP_003733.2:p.Glu1301=
XM_006712817.2:c.3945A>G	XP_006712880.1:p.Glu1315=
XM_011512077.1:c.4005A>G	XP_011510379.1:p.Glu1335=
XM_011512078.1:c.4005A>G	XP_011510380.1:p.Glu1335=
XM_011512079.1:c.4005A>G	XP_011510381.1:p.Glu1335=
XM_011512081.1:c.2229A>G	XP_011510383.1:p.Glu743=
NM_003742.4:c.3903A>G MANE Select	NP_003733.2:p.Glu1301=
XM_006712817.3:c.3945A>G	XP_006712880.1:p.Glu1315=
XM_011512077.2:c.4005A>G	XP_011510379.1:p.Glu1335=
XM_011512078.2:c.4005A>G	XP_011510380.1:p.Glu1335=
XM_011512081.2:c.2229A>G	XP_011510383.1:p.Glu743=
XM_017005165.1:c.3867+972A>G	XP_016860654.1:n.3867+972A>G
XM_017005166.1:c.3234A>G	XP_016860655.1:p.Glu1078=
XM_017005167.1:c.2688A>G	XP_016860656.1:p.Glu896=