Canonical Allele Identifier: CA349108985

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168964205C>T , CM000664.2:g.168964205C>T	GRCh38
NC_000002.11:g.169820715C>T , CM000664.1:g.169820715C>T	GRCh37
NC_000002.10:g.169528961C>T	NCBI36
NG_007374.1:g.72119G>A
NG_007374.2:g.72192G>A

Transcript Alleles

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