Canonical Allele Identifier: CA356221667
Gene: AFAP1 HGNC NCBI
AFAP1-AS1 HGNC NCBI
ClinVar RCV:
ClinVar Variation:
gnomAD v4:
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7768866C>T , CM000666.2:g.7768866C>T GRCh38
NC_000004.11:g.7770593C>T , CM000666.1:g.7770593C>T GRCh37
NC_000004.10:g.7821493C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360265.9:c.2144G>A (AFAP1) ENSP00000353402.4:p.Gly715Glu
ENST00000382543.4:c.2396G>A (AFAP1) ENSP00000371983.3:p.Gly799Glu
ENST00000420658.6:c.2396G>A (AFAP1) MANE Select ENSP00000410689.1:p.Gly799Glu
ENST00000358461.6:c.2144G>A (AFAP1) ENSP00000351245.2:p.Gly715Glu
ENST00000360265.8:c.2144G>A (AFAP1) ENSP00000353402.4:p.Gly715Glu
ENST00000382543.3:c.2396G>A (AFAP1) ENSP00000371983.3:p.Gly799Glu
ENST00000420658.5:c.2396G>A (AFAP1) ENSP00000410689.1:p.Gly799Glu
ENST00000505447.5:n.925G>A (AFAP1)
ENST00000513842.1:n.1391G>A (AFAP1)
NM_001134647.1:c.2396G>A (AFAP1) NP_001128119.1:p.Gly799Glu
NM_198595.2:c.2144G>A (AFAP1) NP_940997.1:p.Gly715Glu
NR_026892.1:n.71-3338C>T (AFAP1-AS1)
XM_006713908.2:c.2459G>A (AFAP1) XP_006713971.1:p.Gly820Glu
XM_006713909.2:c.2207G>A (AFAP1) XP_006713972.1:p.Gly736Glu
XM_011513544.1:c.2396G>A (AFAP1) XP_011511846.1:p.Gly799Glu
XM_011513545.1:c.2261G>A (AFAP1) XP_011511847.1:p.Gly754Glu
XM_006713909.3:c.2207G>A (AFAP1) XP_006713972.1:p.Gly736Glu
XM_011513544.3:c.2396G>A (AFAP1) XP_011511846.1:p.Gly799Glu
XM_017008535.1:c.2198G>A (AFAP1) XP_016864024.1:p.Gly733Glu
NM_001371090.1:c.2144G>A (AFAP1) NP_001358019.1:p.Gly715Glu
NM_001371091.1:c.2144G>A (AFAP1) NP_001358020.1:p.Gly715Glu
NM_001134647.2:c.2396G>A (AFAP1) MANE Select NP_001128119.1:p.Gly799Glu
NM_198595.3:c.2144G>A (AFAP1) NP_940997.1:p.Gly715Glu