Canonical Allele Identifier: CA349114090

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168970167G>A , CM000664.2:g.168970167G>A	GRCh38
NC_000002.11:g.169826677G>A , CM000664.1:g.169826677G>A	GRCh37
NC_000002.10:g.169534923G>A	NCBI36
NG_007374.1:g.66157C>T
NG_007374.2:g.66230C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1687C>T MANE Select	NP_003733.2:p.Gln563Ter
ENST00000650372.1:c.1687C>T MANE Select	ENSP00000497931.1:p.Gln563Ter
NM_003742.2:c.1687C>T	NP_003733.2:p.Gln563Ter
ENST00000263817.6:c.1687C>T	ENSP00000263817.6:p.Gln563Ter
ENST00000439188.1:c.376C>T	ENSP00000416058.1:n.376C>T
ENST00000478354.1:n.425C>T
ENST00000649448.1:c.4C>T	ENSP00000497165.1:p.Gln2Ter
XM_006712817.2:c.1729C>T	XP_006712880.1:p.Gln577Ter
XM_006712817.3:c.1729C>T	XP_006712880.1:p.Gln577Ter
XM_011512077.1:c.1789C>T	XP_011510379.1:p.Gln597Ter
XM_011512077.2:c.1789C>T	XP_011510379.1:p.Gln597Ter
XM_011512078.1:c.1789C>T	XP_011510380.1:p.Gln597Ter
XM_011512078.2:c.1789C>T	XP_011510380.1:p.Gln597Ter
XM_011512079.1:c.1789C>T	XP_011510381.1:p.Gln597Ter
XM_011512080.1:c.1789C>T	XP_011510382.1:p.Gln597Ter
XM_011512080.2:c.1789C>T	XP_011510382.1:p.Gln597Ter
XM_011512081.1:c.13C>T	XP_011510383.1:p.Gln5Ter
XM_011512081.2:c.13C>T	XP_011510383.1:p.Gln5Ter
XM_017005165.1:c.1789C>T	XP_016860654.1:p.Gln597Ter
XM_017005166.1:c.1018C>T	XP_016860655.1:p.Gln340Ter
XM_017005167.1:c.472C>T	XP_016860656.1:p.Gln158Ter