Canonical Allele Identifier: CA5682785

Gene: CFAP58

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104380092G>A , CM000672.2:g.104380092G>A	GRCh38
NC_000010.10:g.106139850G>A , CM000672.1:g.106139850G>A	GRCh37
NC_000010.9:g.106129840G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_001008723.2:c.1237G>A MANE Select	NP_001008723.1:p.Ala413Thr
ENST00000369704.8:c.1237G>A MANE Select	ENSP00000358718.3:p.Ala413Thr
NM_001008723.1:c.1237G>A	NP_001008723.1:p.Ala413Thr
NM_001400226.1:c.1183G>A	NP_001387155.1:p.Ala395Thr
NM_001400227.1:c.1183G>A	NP_001387156.1:p.Ala395Thr
ENST00000369703.1:c.103G>A	ENSP00000358717.1:p.Ala35Thr
ENST00000369704.7:c.1237G>A	ENSP00000358718.3:p.Ala413Thr
XM_011539375.1:c.1267G>A	XP_011537677.1:p.Ala423Thr
XM_011539376.1:c.1183G>A	XP_011537678.1:p.Ala395Thr
XM_011539377.1:c.1183G>A	XP_011537679.1:p.Ala395Thr
XM_011539377.2:c.1183G>A	XP_011537679.1:p.Ala395Thr
XM_017015787.1:c.1183G>A	XP_016871276.1:p.Ala395Thr
XM_017015788.1:c.1183G>A	XP_016871277.1:p.Ala395Thr
XM_017015789.1:c.1237G>A	XP_016871278.1:p.Ala413Thr
XM_017015790.1:c.1237G>A	XP_016871279.1:p.Ala413Thr