Canonical Allele Identifier: CA1306205520
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168923024C= , CM000664.2:g.168923024C= GRCh38
NC_000002.11:g.169779534C= , CM000664.1:g.169779534C= GRCh37
NC_000002.10:g.169487780C= NCBI36
NG_007374.1:g.113300G=
NG_007374.2:g.113373G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000648875.1:c.226+1633G=
ENST00000649448.1:c.2941G= ENSP00000497165.1:n.2941G=
ENST00000650372.1:c.*598G= MANE Select ENSP00000497931.1:n.*598G=
ENST00000263817.6:c.*598G= ENSP00000263817.6:n.*598G=
NM_003742.2:c.*598G= NP_003733.2:n.*598G=
XM_006712817.2:c.*598G= XP_006712880.1:n.*598G=
XM_011512077.1:c.*598G= XP_011510379.1:n.*598G=
XM_011512078.1:c.*552G= XP_011510380.1:n.*552G=
XM_011512079.1:c.*598G= XP_011510381.1:n.*598G=
XM_011512081.1:c.*598G= XP_011510383.1:n.*598G=
NM_003742.4:c.*598G= MANE Select NP_003733.2:n.*598G=
XM_006712817.3:c.*598G= XP_006712880.1:n.*598G=
XM_011512077.2:c.*598G= XP_011510379.1:n.*598G=
XM_011512078.2:c.*552G= XP_011510380.1:n.*552G=
XM_011512081.2:c.*598G= XP_011510383.1:n.*598G=
XM_017005165.1:c.3867+1633G= XP_016860654.1:n.3867+1633G=
XM_017005166.1:c.*598G= XP_016860655.1:n.*598G=
XM_017005167.1:c.*598G= XP_016860656.1:n.*598G=