Canonical Allele Identifier: CA429985258
Gene: ABCB11 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.169801193A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944683A>T , CM000664.2:g.168944683A>T GRCh38
NC_000002.11:g.169801193A>T , CM000664.1:g.169801193A>T GRCh37
NC_000002.10:g.169509439A>T NCBI36
NG_007374.1:g.91641T>A
NG_007374.2:g.91714T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.849T>A ENSP00000497165.1:p.Ile283=
ENST00000650372.1:c.2532T>A MANE Select ENSP00000497931.1:p.Ile844=
ENST00000263817.6:c.2532T>A ENSP00000263817.6:p.Ile844=
ENST00000439188.1:c.1221T>A ENSP00000416058.1:n.1221T>A
NM_003742.2:c.2532T>A NP_003733.2:p.Ile844=
XM_006712817.2:c.2574T>A XP_006712880.1:p.Ile858=
XM_011512077.1:c.2634T>A XP_011510379.1:p.Ile878=
XM_011512078.1:c.2634T>A XP_011510380.1:p.Ile878=
XM_011512079.1:c.2634T>A XP_011510381.1:p.Ile878=
XM_011512080.1:c.2634T>A XP_011510382.1:p.Ile878=
XM_011512081.1:c.858T>A XP_011510383.1:p.Ile286=
NM_003742.4:c.2532T>A MANE Select NP_003733.2:p.Ile844=
XM_006712817.3:c.2574T>A XP_006712880.1:p.Ile858=
XM_011512077.2:c.2634T>A XP_011510379.1:p.Ile878=
XM_011512078.2:c.2634T>A XP_011510380.1:p.Ile878=
XM_011512080.2:c.2634T>A XP_011510382.1:p.Ile878=
XM_011512081.2:c.858T>A XP_011510383.1:p.Ile286=
XM_017005165.1:c.2634T>A XP_016860654.1:p.Ile878=
XM_017005166.1:c.1863T>A XP_016860655.1:p.Ile621=
XM_017005167.1:c.1317T>A XP_016860656.1:p.Ile439=