Canonical Allele Identifier: CA2846586
Gene: AFAP1 HGNC NCBI
AFAP1-AS1 HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7774754T>C , CM000666.2:g.7774754T>C GRCh38
NC_000004.11:g.7776481T>C , CM000666.1:g.7776481T>C GRCh37
NC_000004.10:g.7827381T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360265.9:c.1795A>G (AFAP1) ENSP00000353402.4:p.Ile599Val
ENST00000382543.4:c.2047A>G (AFAP1) ENSP00000371983.3:p.Ile683Val
ENST00000420658.6:c.2047A>G (AFAP1) MANE Select ENSP00000410689.1:p.Ile683Val
ENST00000358461.6:c.1795A>G (AFAP1) ENSP00000351245.2:p.Ile599Val
ENST00000360265.8:c.1795A>G (AFAP1) ENSP00000353402.4:p.Ile599Val
ENST00000382543.3:c.2047A>G (AFAP1) ENSP00000371983.3:p.Ile683Val
ENST00000420658.5:c.2047A>G (AFAP1) ENSP00000410689.1:p.Ile683Val
ENST00000505447.5:n.576A>G (AFAP1)
ENST00000513842.1:n.1042A>G (AFAP1)
NM_001134647.1:c.2047A>G (AFAP1) NP_001128119.1:p.Ile683Val
NM_198595.2:c.1795A>G (AFAP1) NP_940997.1:p.Ile599Val
NR_026892.1:n.2621T>C (AFAP1-AS1)
XM_006713908.2:c.2110A>G (AFAP1) XP_006713971.1:p.Ile704Val
XM_006713909.2:c.1858A>G (AFAP1) XP_006713972.1:p.Ile620Val
XM_011513544.1:c.2047A>G (AFAP1) XP_011511846.1:p.Ile683Val
XM_011513545.1:c.1912A>G (AFAP1) XP_011511847.1:p.Ile638Val
XM_006713909.3:c.1858A>G (AFAP1) XP_006713972.1:p.Ile620Val
XM_011513544.3:c.2047A>G (AFAP1) XP_011511846.1:p.Ile683Val
XM_017008535.1:c.1849A>G (AFAP1) XP_016864024.1:p.Ile617Val
NM_001371090.1:c.1795A>G (AFAP1) NP_001358019.1:p.Ile599Val
NM_001371091.1:c.1795A>G (AFAP1) NP_001358020.1:p.Ile599Val
NM_001134647.2:c.2047A>G (AFAP1) MANE Select NP_001128119.1:p.Ile683Val
NM_198595.3:c.1795A>G (AFAP1) NP_940997.1:p.Ile599Val