Canonical Allele Identifier: CA1951366
Gene: ABCB11 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.168964292G>A
GRCh37 chr2:g.169820802G>A
Revel Score:
ENST00000263817 0.582
gnomAD v2:
2:169820802 G / A
gnomAD v3:
2:168964292 G / A
gnomAD v4:
chr2-168964292-G-A
Joint Max Group AF 0.00022855 (MID)
Genomes Max Group AF 0.00011258 (NFE)
Exomes Max Group AF 0.00023948 (MID)
ClinVar Allele:
285425
ClinVar RCV:
RCV000396525
RCV002487465
RCV003387833
ClinVar Variation:
332029
dbSNP:
539087982
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.168964292G>A , CM000664.2:g.168964292G>A GRCh38
NC_000002.11:g.169820802G>A , CM000664.1:g.169820802G>A GRCh37
NC_000002.10:g.169529048G>A NCBI36
NG_007374.1:g.72032C>T
NG_007374.2:g.72105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649448.1:c.409C>T ENSP00000497165.1:p.Arg137Cys
ENST00000650372.1:c.2092C>T MANE Select ENSP00000497931.1:p.Arg698Cys
ENST00000263817.6:c.2092C>T ENSP00000263817.6:p.Arg698Cys
ENST00000439188.1:c.781C>T ENSP00000416058.1:n.781C>T
NM_003742.2:c.2092C>T NP_003733.2:p.Arg698Cys
XM_006712817.2:c.2134C>T XP_006712880.1:p.Arg712Cys
XM_011512077.1:c.2194C>T XP_011510379.1:p.Arg732Cys
XM_011512078.1:c.2194C>T XP_011510380.1:p.Arg732Cys
XM_011512079.1:c.2194C>T XP_011510381.1:p.Arg732Cys
XM_011512080.1:c.2194C>T XP_011510382.1:p.Arg732Cys
XM_011512081.1:c.418C>T XP_011510383.1:p.Arg140Cys
NM_003742.4:c.2092C>T MANE Select NP_003733.2:p.Arg698Cys
XM_006712817.3:c.2134C>T XP_006712880.1:p.Arg712Cys
XM_011512077.2:c.2194C>T XP_011510379.1:p.Arg732Cys
XM_011512078.2:c.2194C>T XP_011510380.1:p.Arg732Cys
XM_011512080.2:c.2194C>T XP_011510382.1:p.Arg732Cys
XM_011512081.2:c.418C>T XP_011510383.1:p.Arg140Cys
XM_017005165.1:c.2194C>T XP_016860654.1:p.Arg732Cys
XM_017005166.1:c.1423C>T XP_016860655.1:p.Arg475Cys
XM_017005167.1:c.877C>T XP_016860656.1:p.Arg293Cys
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