Canonical Allele Identifier: CA1950958

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168924731G>A , CM000664.2:g.168924731G>A	GRCh38
NC_000002.11:g.169781241G>A , CM000664.1:g.169781241G>A	GRCh37
NC_000002.10:g.169489487G>A	NCBI36
NG_007374.1:g.111593C>T
NG_007374.2:g.111666C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.3691C>T MANE Select	NP_003733.2:p.Arg1231Trp
ENST00000650372.1:c.3691C>T MANE Select	ENSP00000497931.1:p.Arg1231Trp
NM_003742.2:c.3691C>T	NP_003733.2:p.Arg1231Trp
ENST00000263817.6:c.3691C>T	ENSP00000263817.6:p.Arg1231Trp
ENST00000439188.1:c.2308C>T	ENSP00000416058.1:n.2308C>T
ENST00000648875.1:c.152C>T
ENST00000649448.1:c.2068C>T	ENSP00000497165.1:p.Arg690Trp
XM_006712817.2:c.3733C>T	XP_006712880.1:p.Arg1245Trp
XM_006712817.3:c.3733C>T	XP_006712880.1:p.Arg1245Trp
XM_011512077.1:c.3793C>T	XP_011510379.1:p.Arg1265Trp
XM_011512077.2:c.3793C>T	XP_011510379.1:p.Arg1265Trp
XM_011512078.1:c.3793C>T	XP_011510380.1:p.Arg1265Trp
XM_011512078.2:c.3793C>T	XP_011510380.1:p.Arg1265Trp
XM_011512079.1:c.3793C>T	XP_011510381.1:p.Arg1265Trp
XM_011512081.1:c.2017C>T	XP_011510383.1:p.Arg673Trp
XM_011512081.2:c.2017C>T	XP_011510383.1:p.Arg673Trp
XM_017005165.1:c.3793C>T	XP_016860654.1:p.Arg1265Trp
XM_017005166.1:c.3022C>T	XP_016860655.1:p.Arg1008Trp
XM_017005167.1:c.2476C>T	XP_016860656.1:p.Arg826Trp