Canonical Allele Identifier: CA5576175
Gene: ANXA11 HGNC NCBI
COSMIC:
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.80166946G>A , CM000672.2:g.80166946G>A GRCh38
NC_000010.10:g.81926702G>A , CM000672.1:g.81926702G>A GRCh37
NC_000010.9:g.81916682G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000422982.8:c.688C>T MANE Select ENSP00000404412.2:p.Arg230Cys
ENST00000265447.8:c.589C>T ENSP00000265447.5:p.Arg197Cys
ENST00000372231.7:c.688C>T ENSP00000361305.3:p.Arg230Cys
ENST00000422982.7:c.688C>T ENSP00000404412.2:p.Arg230Cys
ENST00000438331.5:c.688C>T ENSP00000398610.1:p.Arg230Cys
ENST00000481805.1:n.246C>T
NM_001157.2:c.688C>T NP_001148.1:p.Arg230Cys
NM_001278407.1:c.688C>T NP_001265336.1:p.Arg230Cys
NM_001278408.1:c.688C>T NP_001265337.1:p.Arg230Cys
NM_001278409.1:c.589C>T NP_001265338.1:p.Arg197Cys
NM_145868.1:c.688C>T NP_665875.1:p.Arg230Cys
NM_145869.1:c.688C>T NP_665876.1:p.Arg230Cys
XM_005269741.3:c.988C>T XP_005269798.1:p.Arg330Cys
XM_005269742.1:c.688C>T XP_005269799.1:p.Arg230Cys
XM_006717813.1:c.688C>T XP_006717876.1:p.Arg230Cys
XM_006717814.2:c.688C>T XP_006717877.1:p.Arg230Cys
XM_011539735.1:c.688C>T XP_011538037.1:p.Arg230Cys
XM_011539736.1:c.688C>T XP_011538038.1:p.Arg230Cys
XM_005269741.4:c.988C>T XP_005269798.1:p.Arg330Cys
XM_006717813.2:c.688C>T XP_006717876.1:p.Arg230Cys
XM_011539736.3:c.688C>T XP_011538038.1:p.Arg230Cys
NM_145868.2:c.688C>T MANE Select NP_665875.1:p.Arg230Cys
NM_001157.3:c.688C>T NP_001148.1:p.Arg230Cys
NM_001278407.2:c.688C>T NP_001265336.1:p.Arg230Cys
NM_001278409.2:c.589C>T NP_001265338.1:p.Arg197Cys
NM_145869.2:c.688C>T NP_665876.1:p.Arg230Cys
NM_001278408.2:c.688C>T NP_001265337.1:p.Arg230Cys