Canonical Allele Identifier: CA349118389

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924788C>A , CM000664.2:g.168924788C>A	GRCh38
NC_000002.11:g.169781298C>A , CM000664.1:g.169781298C>A	GRCh37
NC_000002.10:g.169489544C>A	NCBI36
NG_007374.1:g.111536G>T
NG_007374.2:g.111609G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3634G>T MANE Select	NP_003733.2:p.Val1212Phe
ENST00000650372.1:c.3634G>T MANE Select	ENSP00000497931.1:p.Val1212Phe
NM_003742.2:c.3634G>T	NP_003733.2:p.Val1212Phe
ENST00000263817.6:c.3634G>T	ENSP00000263817.6:p.Val1212Phe
ENST00000439188.1:c.2251G>T	ENSP00000416058.1:n.2251G>T
ENST00000648875.1:c.95G>T
ENST00000649448.1:c.2011G>T	ENSP00000497165.1:p.Val671Phe
XM_006712817.2:c.3676G>T	XP_006712880.1:p.Val1226Phe
XM_006712817.3:c.3676G>T	XP_006712880.1:p.Val1226Phe
XM_011512077.1:c.3736G>T	XP_011510379.1:p.Val1246Phe
XM_011512077.2:c.3736G>T	XP_011510379.1:p.Val1246Phe
XM_011512078.1:c.3736G>T	XP_011510380.1:p.Val1246Phe
XM_011512078.2:c.3736G>T	XP_011510380.1:p.Val1246Phe
XM_011512079.1:c.3736G>T	XP_011510381.1:p.Val1246Phe
XM_011512081.1:c.1960G>T	XP_011510383.1:p.Val654Phe
XM_011512081.2:c.1960G>T	XP_011510383.1:p.Val654Phe
XM_017005165.1:c.3736G>T	XP_016860654.1:p.Val1246Phe
XM_017005166.1:c.2965G>T	XP_016860655.1:p.Val989Phe
XM_017005167.1:c.2419G>T	XP_016860656.1:p.Val807Phe