Canonical Allele Identifier: CA429985223
Gene: ABCB11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.169801163A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944653A>C , CM000664.2:g.168944653A>C GRCh38
NC_000002.11:g.169801163A>C , CM000664.1:g.169801163A>C GRCh37
NC_000002.10:g.169509409A>C NCBI36
NG_007374.1:g.91671T>G
NG_007374.2:g.91744T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.879T>G ENSP00000497165.1:p.Pro293=
ENST00000650372.1:c.2562T>G MANE Select ENSP00000497931.1:p.Pro854=
ENST00000263817.6:c.2562T>G ENSP00000263817.6:p.Pro854=
ENST00000439188.1:c.1251T>G ENSP00000416058.1:n.1251T>G
NM_003742.2:c.2562T>G NP_003733.2:p.Pro854=
XM_006712817.2:c.2604T>G XP_006712880.1:p.Pro868=
XM_011512077.1:c.2664T>G XP_011510379.1:p.Pro888=
XM_011512078.1:c.2664T>G XP_011510380.1:p.Pro888=
XM_011512079.1:c.2664T>G XP_011510381.1:p.Pro888=
XM_011512080.1:c.2664T>G XP_011510382.1:p.Pro888=
XM_011512081.1:c.888T>G XP_011510383.1:p.Pro296=
NM_003742.4:c.2562T>G MANE Select NP_003733.2:p.Pro854=
XM_006712817.3:c.2604T>G XP_006712880.1:p.Pro868=
XM_011512077.2:c.2664T>G XP_011510379.1:p.Pro888=
XM_011512078.2:c.2664T>G XP_011510380.1:p.Pro888=
XM_011512080.2:c.2664T>G XP_011510382.1:p.Pro888=
XM_011512081.2:c.888T>G XP_011510383.1:p.Pro296=
XM_017005165.1:c.2664T>G XP_016860654.1:p.Pro888=
XM_017005166.1:c.1893T>G XP_016860655.1:p.Pro631=
XM_017005167.1:c.1347T>G XP_016860656.1:p.Pro449=