Canonical Allele Identifier: CA1950926

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168923820C>T , CM000664.2:g.168923820C>T	GRCh38
NC_000002.11:g.169780330C>T , CM000664.1:g.169780330C>T	GRCh37
NC_000002.10:g.169488576C>T	NCBI36
NG_007374.1:g.112504G>A
NG_007374.2:g.112577G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648875.1:c.226+837G>A
ENST00000649448.1:c.2145G>A	ENSP00000497165.1:p.Thr715=
ENST00000650372.1:c.3768G>A MANE Select	ENSP00000497931.1:p.Thr1256=
ENST00000263817.6:c.3768G>A	ENSP00000263817.6:p.Thr1256=
ENST00000439188.1:c.2385G>A	ENSP00000416058.1:n.2385G>A
NM_003742.2:c.3768G>A	NP_003733.2:p.Thr1256=
XM_006712817.2:c.3810G>A	XP_006712880.1:p.Thr1270=
XM_011512077.1:c.3870G>A	XP_011510379.1:p.Thr1290=
XM_011512078.1:c.3870G>A	XP_011510380.1:p.Thr1290=
XM_011512079.1:c.3870G>A	XP_011510381.1:p.Thr1290=
XM_011512081.1:c.2094G>A	XP_011510383.1:p.Thr698=
NM_003742.4:c.3768G>A MANE Select	NP_003733.2:p.Thr1256=
XM_006712817.3:c.3810G>A	XP_006712880.1:p.Thr1270=
XM_011512077.2:c.3870G>A	XP_011510379.1:p.Thr1290=
XM_011512078.2:c.3870G>A	XP_011510380.1:p.Thr1290=
XM_011512081.2:c.2094G>A	XP_011510383.1:p.Thr698=
XM_017005165.1:c.3867+837G>A	XP_016860654.1:n.3867+837G>A
XM_017005166.1:c.3099G>A	XP_016860655.1:p.Thr1033=
XM_017005167.1:c.2553G>A	XP_016860656.1:p.Thr851=