Canonical Allele Identifier: CA429912476

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923754G>C , CM000664.2:g.168923754G>C	GRCh38
NC_000002.11:g.169780264G>C , CM000664.1:g.169780264G>C	GRCh37
NC_000002.10:g.169488510G>C	NCBI36
NG_007374.1:g.112570C>G
NG_007374.2:g.112643C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+903C>G
ENST00000649448.1:c.2211C>G	ENSP00000497165.1:p.Ser737=
ENST00000650372.1:c.3834C>G MANE Select	ENSP00000497931.1:p.Ser1278=
ENST00000263817.6:c.3834C>G	ENSP00000263817.6:p.Ser1278=
ENST00000439188.1:c.2451C>G	ENSP00000416058.1:n.2451C>G
NM_003742.2:c.3834C>G	NP_003733.2:p.Ser1278=
XM_006712817.2:c.3876C>G	XP_006712880.1:p.Ser1292=
XM_011512077.1:c.3936C>G	XP_011510379.1:p.Ser1312=
XM_011512078.1:c.3936C>G	XP_011510380.1:p.Ser1312=
XM_011512079.1:c.3936C>G	XP_011510381.1:p.Ser1312=
XM_011512081.1:c.2160C>G	XP_011510383.1:p.Ser720=
NM_003742.4:c.3834C>G MANE Select	NP_003733.2:p.Ser1278=
XM_006712817.3:c.3876C>G	XP_006712880.1:p.Ser1292=
XM_011512077.2:c.3936C>G	XP_011510379.1:p.Ser1312=
XM_011512078.2:c.3936C>G	XP_011510380.1:p.Ser1312=
XM_011512081.2:c.2160C>G	XP_011510383.1:p.Ser720=
XM_017005165.1:c.3867+903C>G	XP_016860654.1:n.3867+903C>G
XM_017005166.1:c.3165C>G	XP_016860655.1:p.Ser1055=
XM_017005167.1:c.2619C>G	XP_016860656.1:p.Ser873=