Canonical Allele Identifier: CA1951246
Gene: ABCB11 HGNC NCBI

Linked Data

ClinVar Variation Id: 235398
dbSNP Id: rs118109635

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168944621G>A , CM000664.2:g.168944621G>A GRCh38
NC_000002.11:g.169801131G>A , CM000664.1:g.169801131G>A GRCh37
NC_000002.10:g.169509377G>A NCBI36
NG_007374.1:g.91703C>T
NG_007374.2:g.91776C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000649448.1:c.911C>T ENSP00000497165.1:p.Ala304Val
ENST00000650372.1:c.2594C>T MANE Select ENSP00000497931.1:p.Ala865Val
ENST00000263817.6:c.2594C>T ENSP00000263817.6:p.Ala865Val
ENST00000439188.1:c.1283C>T ENSP00000416058.1:n.1283C>T
NM_003742.2:c.2594C>T NP_003733.2:p.Ala865Val
XM_006712817.2:c.2636C>T XP_006712880.1:p.Ala879Val
XM_011512077.1:c.2696C>T XP_011510379.1:p.Ala899Val
XM_011512078.1:c.2696C>T XP_011510380.1:p.Ala899Val
XM_011512079.1:c.2696C>T XP_011510381.1:p.Ala899Val
XM_011512080.1:c.2696C>T XP_011510382.1:p.Ala899Val
XM_011512081.1:c.920C>T XP_011510383.1:p.Ala307Val
NM_003742.4:c.2594C>T MANE Select NP_003733.2:p.Ala865Val
XM_006712817.3:c.2636C>T XP_006712880.1:p.Ala879Val
XM_011512077.2:c.2696C>T XP_011510379.1:p.Ala899Val
XM_011512078.2:c.2696C>T XP_011510380.1:p.Ala899Val
XM_011512080.2:c.2696C>T XP_011510382.1:p.Ala899Val
XM_011512081.2:c.920C>T XP_011510383.1:p.Ala307Val
XM_017005165.1:c.2696C>T XP_016860654.1:p.Ala899Val
XM_017005166.1:c.1925C>T XP_016860655.1:p.Ala642Val
XM_017005167.1:c.1379C>T XP_016860656.1:p.Ala460Val