Canonical Allele Identifier: CA349122465
Gene: ABCB11 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168932454T>C , CM000664.2:g.168932454T>C GRCh38
NC_000002.11:g.169788964T>C , CM000664.1:g.169788964T>C GRCh37
NC_000002.10:g.169497210T>C NCBI36
NG_007374.1:g.103870A>G
NG_007374.2:g.103943A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.1453A>G ENSP00000497165.1:p.Ile485Val
ENST00000650372.1:c.3136A>G MANE Select ENSP00000497931.1:p.Ile1046Val
ENST00000263817.6:c.3136A>G ENSP00000263817.6:p.Ile1046Val
ENST00000439188.1:c.1825A>G ENSP00000416058.1:n.1825A>G
NM_003742.2:c.3136A>G NP_003733.2:p.Ile1046Val
XM_006712817.2:c.3178A>G XP_006712880.1:p.Ile1060Val
XM_011512077.1:c.3238A>G XP_011510379.1:p.Ile1080Val
XM_011512078.1:c.3238A>G XP_011510380.1:p.Ile1080Val
XM_011512079.1:c.3238A>G XP_011510381.1:p.Ile1080Val
XM_011512081.1:c.1462A>G XP_011510383.1:p.Ile488Val
NM_003742.4:c.3136A>G MANE Select NP_003733.2:p.Ile1046Val
XM_006712817.3:c.3178A>G XP_006712880.1:p.Ile1060Val
XM_011512077.2:c.3238A>G XP_011510379.1:p.Ile1080Val
XM_011512078.2:c.3238A>G XP_011510380.1:p.Ile1080Val
XM_011512081.2:c.1462A>G XP_011510383.1:p.Ile488Val
XM_017005165.1:c.3238A>G XP_016860654.1:p.Ile1080Val
XM_017005166.1:c.2467A>G XP_016860655.1:p.Ile823Val
XM_017005167.1:c.1921A>G XP_016860656.1:p.Ile641Val