Canonical Allele Identifier: CA1950913

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923740G>A , CM000664.2:g.168923740G>A	GRCh38
NC_000002.11:g.169780250G>A , CM000664.1:g.169780250G>A	GRCh37
NC_000002.10:g.169488496G>A	NCBI36
NG_007374.1:g.112584C>T
NG_007374.2:g.112657C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+917C>T
ENST00000649448.1:c.2225C>T	ENSP00000497165.1:p.Ala742Val
ENST00000650372.1:c.3848C>T MANE Select	ENSP00000497931.1:p.Ala1283Val
ENST00000263817.6:c.3848C>T	ENSP00000263817.6:p.Ala1283Val
ENST00000439188.1:c.2465C>T	ENSP00000416058.1:n.2465C>T
NM_003742.2:c.3848C>T	NP_003733.2:p.Ala1283Val
XM_006712817.2:c.3890C>T	XP_006712880.1:p.Ala1297Val
XM_011512077.1:c.3950C>T	XP_011510379.1:p.Ala1317Val
XM_011512078.1:c.3950C>T	XP_011510380.1:p.Ala1317Val
XM_011512079.1:c.3950C>T	XP_011510381.1:p.Ala1317Val
XM_011512081.1:c.2174C>T	XP_011510383.1:p.Ala725Val
NM_003742.4:c.3848C>T MANE Select	NP_003733.2:p.Ala1283Val
XM_006712817.3:c.3890C>T	XP_006712880.1:p.Ala1297Val
XM_011512077.2:c.3950C>T	XP_011510379.1:p.Ala1317Val
XM_011512078.2:c.3950C>T	XP_011510380.1:p.Ala1317Val
XM_011512081.2:c.2174C>T	XP_011510383.1:p.Ala725Val
XM_017005165.1:c.3867+917C>T	XP_016860654.1:n.3867+917C>T
XM_017005166.1:c.3179C>T	XP_016860655.1:p.Ala1060Val
XM_017005167.1:c.2633C>T	XP_016860656.1:p.Ala878Val