Canonical Allele Identifier: CA2661802344
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168922921G>T , CM000664.2:g.168922921G>T GRCh38
NC_000002.11:g.169779431G>T , CM000664.1:g.169779431G>T GRCh37
NC_000002.10:g.169487677G>T NCBI36
NG_007374.1:g.113403C>A
NG_007374.2:g.113476C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000648875.1:c.226+1736C>A
ENST00000650372.1:c.*701C>A MANE Select ENSP00000497931.1:n.*701C>A
XM_006712817.2:c.*701C>A XP_006712880.1:n.*701C>A
XM_011512077.1:c.*701C>A XP_011510379.1:n.*701C>A
XM_011512078.1:c.*655C>A XP_011510380.1:n.*655C>A
XM_011512079.1:c.*701C>A XP_011510381.1:n.*701C>A
XM_011512081.1:c.*701C>A XP_011510383.1:n.*701C>A
NM_003742.4:c.*701C>A MANE Select NP_003733.2:n.*701C>A
XM_006712817.3:c.*701C>A XP_006712880.1:n.*701C>A
XM_011512077.2:c.*701C>A XP_011510379.1:n.*701C>A
XM_011512078.2:c.*655C>A XP_011510380.1:n.*655C>A
XM_011512081.2:c.*701C>A XP_011510383.1:n.*701C>A
XM_017005165.1:c.3867+1736C>A XP_016860654.1:n.3867+1736C>A
XM_017005166.1:c.*701C>A XP_016860655.1:n.*701C>A
XM_017005167.1:c.*701C>A XP_016860656.1:n.*701C>A