Canonical Allele Identifier: CA2661805122
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944853T>C , CM000664.2:g.168944853T>C GRCh38
NC_000002.11:g.169801363T>C , CM000664.1:g.169801363T>C GRCh37
NC_000002.10:g.169509609T>C NCBI36
NG_007374.1:g.91471A>G
NG_007374.2:g.91544A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.765+4A>G ENSP00000497165.1:n.765+4A>G
ENST00000650372.1:c.2448+4A>G MANE Select ENSP00000497931.1:n.2448+4A>G
ENST00000263817.6:c.2448+4A>G ENSP00000263817.6:n.2448+4A>G
ENST00000439188.1:c.1137+4A>G ENSP00000416058.1:n.1137+4A>G
NM_003742.2:c.2448+4A>G NP_003733.2:n.2448+4A>G
XM_006712817.2:c.2490+4A>G XP_006712880.1:n.2490+4A>G
XM_011512077.1:c.2550+4A>G XP_011510379.1:n.2550+4A>G
XM_011512078.1:c.2550+4A>G XP_011510380.1:n.2550+4A>G
XM_011512079.1:c.2550+4A>G XP_011510381.1:n.2550+4A>G
XM_011512080.1:c.2550+4A>G XP_011510382.1:n.2550+4A>G
XM_011512081.1:c.774+4A>G XP_011510383.1:n.774+4A>G
NM_003742.4:c.2448+4A>G MANE Select NP_003733.2:n.2448+4A>G
XM_006712817.3:c.2490+4A>G XP_006712880.1:n.2490+4A>G
XM_011512077.2:c.2550+4A>G XP_011510379.1:n.2550+4A>G
XM_011512078.2:c.2550+4A>G XP_011510380.1:n.2550+4A>G
XM_011512080.2:c.2550+4A>G XP_011510382.1:n.2550+4A>G
XM_011512081.2:c.774+4A>G XP_011510383.1:n.774+4A>G
XM_017005165.1:c.2550+4A>G XP_016860654.1:n.2550+4A>G
XM_017005166.1:c.1779+4A>G XP_016860655.1:n.1779+4A>G
XM_017005167.1:c.1233+4A>G XP_016860656.1:n.1233+4A>G