Canonical Allele Identifier: CA349108977

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168964204A>G , CM000664.2:g.168964204A>G	GRCh38
NC_000002.11:g.169820714A>G , CM000664.1:g.169820714A>G	GRCh37
NC_000002.10:g.169528960A>G	NCBI36
NG_007374.1:g.72120T>C
NG_007374.2:g.72193T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2178+2T>C MANE Select	NP_003733.2:n.2178+2T>C
ENST00000650372.1:c.2178+2T>C MANE Select	ENSP00000497931.1:n.2178+2T>C
NM_003742.2:c.2178+2T>C	NP_003733.2:n.2178+2T>C
ENST00000263817.6:c.2178+2T>C	ENSP00000263817.6:n.2178+2T>C
ENST00000439188.1:c.867+2T>C	ENSP00000416058.1:n.867+2T>C
ENST00000649448.1:c.495+2T>C	ENSP00000497165.1:n.495+2T>C
XM_006712817.2:c.2220+2T>C	XP_006712880.1:n.2220+2T>C
XM_006712817.3:c.2220+2T>C	XP_006712880.1:n.2220+2T>C
XM_011512077.1:c.2280+2T>C	XP_011510379.1:n.2280+2T>C
XM_011512077.2:c.2280+2T>C	XP_011510379.1:n.2280+2T>C
XM_011512078.1:c.2280+2T>C	XP_011510380.1:n.2280+2T>C
XM_011512078.2:c.2280+2T>C	XP_011510380.1:n.2280+2T>C
XM_011512079.1:c.2280+2T>C	XP_011510381.1:n.2280+2T>C
XM_011512080.1:c.2280+2T>C	XP_011510382.1:n.2280+2T>C
XM_011512080.2:c.2280+2T>C	XP_011510382.1:n.2280+2T>C
XM_011512081.1:c.504+2T>C	XP_011510383.1:n.504+2T>C
XM_011512081.2:c.504+2T>C	XP_011510383.1:n.504+2T>C
XM_017005165.1:c.2280+2T>C	XP_016860654.1:n.2280+2T>C
XM_017005166.1:c.1509+2T>C	XP_016860655.1:n.1509+2T>C
XM_017005167.1:c.963+2T>C	XP_016860656.1:n.963+2T>C