Canonical Allele Identifier: CA349115171

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168971849G>A , CM000664.2:g.168971849G>A	GRCh38
NC_000002.11:g.169828359G>A , CM000664.1:g.169828359G>A	GRCh37
NC_000002.10:g.169536605G>A	NCBI36
NG_007374.1:g.64475C>T
NG_007374.2:g.64548C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.1636C>T MANE Select	NP_003733.2:p.Gln546Ter
ENST00000650372.1:c.1636C>T MANE Select	ENSP00000497931.1:p.Gln546Ter
NM_003742.2:c.1636C>T	NP_003733.2:p.Gln546Ter
ENST00000263817.6:c.1636C>T	ENSP00000263817.6:p.Gln546Ter
ENST00000439188.1:c.184C>T	ENSP00000416058.1:p.Gln62Ter
XM_006712817.2:c.1678C>T	XP_006712880.1:p.Gln560Ter
XM_006712817.3:c.1678C>T	XP_006712880.1:p.Gln560Ter
XM_011512077.1:c.1738C>T	XP_011510379.1:p.Gln580Ter
XM_011512077.2:c.1738C>T	XP_011510379.1:p.Gln580Ter
XM_011512078.1:c.1738C>T	XP_011510380.1:p.Gln580Ter
XM_011512078.2:c.1738C>T	XP_011510380.1:p.Gln580Ter
XM_011512079.1:c.1738C>T	XP_011510381.1:p.Gln580Ter
XM_011512080.1:c.1738C>T	XP_011510382.1:p.Gln580Ter
XM_011512080.2:c.1738C>T	XP_011510382.1:p.Gln580Ter
XM_011512081.1:c.-180C>T	XP_011510383.1:n.-180C>T
XM_011512081.2:c.-180C>T	XP_011510383.1:n.-180C>T
XM_017005165.1:c.1738C>T	XP_016860654.1:p.Gln580Ter
XM_017005166.1:c.967C>T	XP_016860655.1:p.Gln323Ter
XM_017005167.1:c.421C>T	XP_016860656.1:p.Gln141Ter