Canonical Allele Identifier: CA356221762

Gene: AFAP1 AFAP1-AS1

Linked Data

• ClinVar Variation Id: 2604165
• ClinVar RCV Id: RCV004348470
• gnomAD v4: 4-7768890-G-A
• MyVariant Identifiers: chr4:g.7770617G>A (hg19) ; chr4:g.7768890G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.7768890G>A , CM000666.2:g.7768890G>A	GRCh38
NC_000004.11:g.7770617G>A , CM000666.1:g.7770617G>A	GRCh37
NC_000004.10:g.7821517G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000360265.9:c.2120C>T (AFAP1)	ENSP00000353402.4:p.Ala707Val
ENST00000382543.4:c.2372C>T (AFAP1)	ENSP00000371983.3:p.Ala791Val
ENST00000420658.6:c.2372C>T (AFAP1) MANE Select	ENSP00000410689.1:p.Ala791Val
ENST00000358461.6:c.2120C>T (AFAP1)	ENSP00000351245.2:p.Ala707Val
ENST00000360265.8:c.2120C>T (AFAP1)	ENSP00000353402.4:p.Ala707Val
ENST00000382543.3:c.2372C>T (AFAP1)	ENSP00000371983.3:p.Ala791Val
ENST00000420658.5:c.2372C>T (AFAP1)	ENSP00000410689.1:p.Ala791Val
ENST00000505447.5:n.901C>T (AFAP1)
ENST00000513842.1:n.1367C>T (AFAP1)
NM_001134647.1:c.2372C>T (AFAP1)	NP_001128119.1:p.Ala791Val
NM_198595.2:c.2120C>T (AFAP1)	NP_940997.1:p.Ala707Val
NR_026892.1:n.71-3314G>A (AFAP1-AS1)
XM_006713908.2:c.2435C>T (AFAP1)	XP_006713971.1:p.Ala812Val
XM_006713909.2:c.2183C>T (AFAP1)	XP_006713972.1:p.Ala728Val
XM_011513544.1:c.2372C>T (AFAP1)	XP_011511846.1:p.Ala791Val
XM_011513545.1:c.2237C>T (AFAP1)	XP_011511847.1:p.Ala746Val
XM_006713909.3:c.2183C>T (AFAP1)	XP_006713972.1:p.Ala728Val
XM_011513544.3:c.2372C>T (AFAP1)	XP_011511846.1:p.Ala791Val
XM_017008535.1:c.2174C>T (AFAP1)	XP_016864024.1:p.Ala725Val
NM_001371090.1:c.2120C>T (AFAP1)	NP_001358019.1:p.Ala707Val
NM_001371091.1:c.2120C>T (AFAP1)	NP_001358020.1:p.Ala707Val
NM_001134647.2:c.2372C>T (AFAP1) MANE Select	NP_001128119.1:p.Ala791Val
NM_198595.3:c.2120C>T (AFAP1)	NP_940997.1:p.Ala707Val