Canonical Allele Identifier: CA1950912

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923739C>T , CM000664.2:g.168923739C>T	GRCh38
NC_000002.11:g.169780249C>T , CM000664.1:g.169780249C>T	GRCh37
NC_000002.10:g.169488495C>T	NCBI36
NG_007374.1:g.112585G>A
NG_007374.2:g.112658G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+918G>A
ENST00000649448.1:c.2226G>A	ENSP00000497165.1:p.Ala742=
ENST00000650372.1:c.3849G>A MANE Select	ENSP00000497931.1:p.Ala1283=
ENST00000263817.6:c.3849G>A	ENSP00000263817.6:p.Ala1283=
ENST00000439188.1:c.2466G>A	ENSP00000416058.1:n.2466G>A
NM_003742.2:c.3849G>A	NP_003733.2:p.Ala1283=
XM_006712817.2:c.3891G>A	XP_006712880.1:p.Ala1297=
XM_011512077.1:c.3951G>A	XP_011510379.1:p.Ala1317=
XM_011512078.1:c.3951G>A	XP_011510380.1:p.Ala1317=
XM_011512079.1:c.3951G>A	XP_011510381.1:p.Ala1317=
XM_011512081.1:c.2175G>A	XP_011510383.1:p.Ala725=
NM_003742.4:c.3849G>A MANE Select	NP_003733.2:p.Ala1283=
XM_006712817.3:c.3891G>A	XP_006712880.1:p.Ala1297=
XM_011512077.2:c.3951G>A	XP_011510379.1:p.Ala1317=
XM_011512078.2:c.3951G>A	XP_011510380.1:p.Ala1317=
XM_011512081.2:c.2175G>A	XP_011510383.1:p.Ala725=
XM_017005165.1:c.3867+918G>A	XP_016860654.1:n.3867+918G>A
XM_017005166.1:c.3180G>A	XP_016860655.1:p.Ala1060=
XM_017005167.1:c.2634G>A	XP_016860656.1:p.Ala878=