Canonical Allele Identifier: CA1951680
Community Standard Title: NM_003742.4(ABCB11):c.1156G>T (p.Gly386Ter)
Gene: ABCB11 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168979907C>A , CM000664.2:g.168979907C>A GRCh38
NC_000002.11:g.169836417C>A , CM000664.1:g.169836417C>A GRCh37
NC_000002.10:g.169544663C>A NCBI36
NG_007374.1:g.56417G>T
NG_007374.2:g.56490G>T

Transcript Alleles

HGVS Amino-acid Change
NM_003742.4:c.1156G>T MANE Select NP_003733.2:p.Gly386Ter
ENST00000650372.1:c.1156G>T MANE Select ENSP00000497931.1:p.Gly386Ter
NM_003742.2:c.1156G>T NP_003733.2:p.Gly386Ter
ENST00000263817.6:c.1156G>T ENSP00000263817.6:p.Gly386Ter
XM_006712817.2:c.1198G>T XP_006712880.1:p.Gly400Ter
XM_006712817.3:c.1198G>T XP_006712880.1:p.Gly400Ter
XM_011512077.1:c.1258G>T XP_011510379.1:p.Gly420Ter
XM_011512077.2:c.1258G>T XP_011510379.1:p.Gly420Ter
XM_011512078.1:c.1258G>T XP_011510380.1:p.Gly420Ter
XM_011512078.2:c.1258G>T XP_011510380.1:p.Gly420Ter
XM_011512079.1:c.1258G>T XP_011510381.1:p.Gly420Ter
XM_011512080.1:c.1258G>T XP_011510382.1:p.Gly420Ter
XM_011512080.2:c.1258G>T XP_011510382.1:p.Gly420Ter
XM_017005165.1:c.1258G>T XP_016860654.1:p.Gly420Ter
XM_017005166.1:c.487G>T XP_016860655.1:p.Gly163Ter