Canonical Allele Identifier: CA1951389

Gene: ABCB11

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.168968466G>A , CM000664.2:g.168968466G>A	GRCh38
NC_000002.11:g.169824976G>A , CM000664.1:g.169824976G>A	GRCh37
NC_000002.10:g.169533222G>A	NCBI36
NG_007374.1:g.67858C>T
NG_007374.2:g.67931C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_003742.4:c.2036C>T MANE Select	NP_003733.2:p.Ala679Val
ENST00000650372.1:c.2036C>T MANE Select	ENSP00000497931.1:p.Ala679Val
NM_003742.2:c.2036C>T	NP_003733.2:p.Ala679Val
ENST00000263817.6:c.2036C>T	ENSP00000263817.6:p.Ala679Val
ENST00000439188.1:c.725C>T	ENSP00000416058.1:n.725C>T
ENST00000649448.1:c.353C>T	ENSP00000497165.1:p.Ala118Val
XM_006712817.2:c.2078C>T	XP_006712880.1:p.Ala693Val
XM_006712817.3:c.2078C>T	XP_006712880.1:p.Ala693Val
XM_011512077.1:c.2138C>T	XP_011510379.1:p.Ala713Val
XM_011512077.2:c.2138C>T	XP_011510379.1:p.Ala713Val
XM_011512078.1:c.2138C>T	XP_011510380.1:p.Ala713Val
XM_011512078.2:c.2138C>T	XP_011510380.1:p.Ala713Val
XM_011512079.1:c.2138C>T	XP_011510381.1:p.Ala713Val
XM_011512080.1:c.2138C>T	XP_011510382.1:p.Ala713Val
XM_011512080.2:c.2138C>T	XP_011510382.1:p.Ala713Val
XM_011512081.1:c.362C>T	XP_011510383.1:p.Ala121Val
XM_011512081.2:c.362C>T	XP_011510383.1:p.Ala121Val
XM_017005165.1:c.2138C>T	XP_016860654.1:p.Ala713Val
XM_017005166.1:c.1367C>T	XP_016860655.1:p.Ala456Val
XM_017005167.1:c.821C>T	XP_016860656.1:p.Ala274Val