Canonical Allele Identifier: CA356223223
Gene: AFAP1 HGNC NCBI
AFAP1-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2537687
ClinVar RCV Id: RCV004309239

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.7772873C>G , CM000666.2:g.7772873C>G GRCh38
NC_000004.11:g.7774600C>G , CM000666.1:g.7774600C>G GRCh37
NC_000004.10:g.7825500C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000360265.9:c.1948G>C (AFAP1) ENSP00000353402.4:p.Gly650Arg
ENST00000382543.4:c.2200G>C (AFAP1) ENSP00000371983.3:p.Gly734Arg
ENST00000420658.6:c.2200G>C (AFAP1) MANE Select ENSP00000410689.1:p.Gly734Arg
ENST00000358461.6:c.1948G>C (AFAP1) ENSP00000351245.2:p.Gly650Arg
ENST00000360265.8:c.1948G>C (AFAP1) ENSP00000353402.4:p.Gly650Arg
ENST00000382543.3:c.2200G>C (AFAP1) ENSP00000371983.3:p.Gly734Arg
ENST00000420658.5:c.2200G>C (AFAP1) ENSP00000410689.1:p.Gly734Arg
ENST00000505447.5:n.729G>C (AFAP1)
ENST00000513842.1:n.1195G>C (AFAP1)
NM_001134647.1:c.2200G>C (AFAP1) NP_001128119.1:p.Gly734Arg
NM_198595.2:c.1948G>C (AFAP1) NP_940997.1:p.Gly650Arg
NR_026892.1:n.740C>G (AFAP1-AS1)
XM_006713908.2:c.2263G>C (AFAP1) XP_006713971.1:p.Gly755Arg
XM_006713909.2:c.2011G>C (AFAP1) XP_006713972.1:p.Gly671Arg
XM_011513544.1:c.2200G>C (AFAP1) XP_011511846.1:p.Gly734Arg
XM_011513545.1:c.2065G>C (AFAP1) XP_011511847.1:p.Gly689Arg
XM_006713909.3:c.2011G>C (AFAP1) XP_006713972.1:p.Gly671Arg
XM_011513544.3:c.2200G>C (AFAP1) XP_011511846.1:p.Gly734Arg
XM_017008535.1:c.2002G>C (AFAP1) XP_016864024.1:p.Gly668Arg
NM_001371090.1:c.1948G>C (AFAP1) NP_001358019.1:p.Gly650Arg
NM_001371091.1:c.1948G>C (AFAP1) NP_001358020.1:p.Gly650Arg
NM_001134647.2:c.2200G>C (AFAP1) MANE Select NP_001128119.1:p.Gly734Arg
NM_198595.3:c.1948G>C (AFAP1) NP_940997.1:p.Gly650Arg