Canonical Allele Identifier: CA1951164

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168935397C>T , CM000664.2:g.168935397C>T	GRCh38
NC_000002.11:g.169791907C>T , CM000664.1:g.169791907C>T	GRCh37
NC_000002.10:g.169500153C>T	NCBI36
NG_007374.1:g.100927G>A
NG_007374.2:g.101000G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2843G>A MANE Select	NP_003733.2:p.Arg948His
ENST00000650372.1:c.2843G>A MANE Select	ENSP00000497931.1:p.Arg948His
NM_003742.2:c.2843G>A	NP_003733.2:p.Arg948His
ENST00000263817.6:c.2843G>A	ENSP00000263817.6:p.Arg948His
ENST00000439188.1:c.1532G>A	ENSP00000416058.1:n.1532G>A
ENST00000647920.1:c.10G>A
ENST00000649448.1:c.1160G>A	ENSP00000497165.1:p.Arg387His
XM_006712817.2:c.2885G>A	XP_006712880.1:p.Arg962His
XM_006712817.3:c.2885G>A	XP_006712880.1:p.Arg962His
XM_011512077.1:c.2945G>A	XP_011510379.1:p.Arg982His
XM_011512077.2:c.2945G>A	XP_011510379.1:p.Arg982His
XM_011512078.1:c.2945G>A	XP_011510380.1:p.Arg982His
XM_011512078.2:c.2945G>A	XP_011510380.1:p.Arg982His
XM_011512079.1:c.2945G>A	XP_011510381.1:p.Arg982His
XM_011512080.1:c.*54G>A	XP_011510382.1:n.*54G>A
XM_011512080.2:c.*54G>A	XP_011510382.1:n.*54G>A
XM_011512081.1:c.1169G>A	XP_011510383.1:p.Arg390His
XM_011512081.2:c.1169G>A	XP_011510383.1:p.Arg390His
XM_017005165.1:c.2945G>A	XP_016860654.1:p.Arg982His
XM_017005166.1:c.2174G>A	XP_016860655.1:p.Arg725His
XM_017005167.1:c.1628G>A	XP_016860656.1:p.Arg543His