Canonical Allele Identifier: CA8814626

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80097353T>A , CM000679.2:g.80097353T>A	GRCh38
NC_000017.10:g.78071152T>A , CM000679.1:g.78071152T>A	GRCh37
NC_000017.9:g.75685747T>A	NCBI36
NG_009822.1:g.798T>A , LRG_673:g.798T>A
NG_029761.1:g.65722T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3130T>A MANE Select	NP_060420.2:p.Phe1044Ile
ENST00000397545.9:c.3130T>A MANE Select	ENSP00000380679.4:p.Phe1044Ile
NM_017950.3:c.3130T>A	NP_060420.2:p.Phe1044Ile
ENST00000397545.8:c.3130T>A	ENSP00000380679.4:p.Phe1044Ile
ENST00000572253.5:n.3381T>A
ENST00000574799.5:n.2667T>A
XM_011524963.1:c.3040T>A	XP_011523265.1:p.Phe1014Ile
XM_011524963.3:c.3040T>A	XP_011523265.1:p.Phe1014Ile
XM_011524964.1:c.1951T>A	XP_011523266.1:p.Phe651Ile
XM_011524964.3:c.1951T>A	XP_011523266.1:p.Phe651Ile
XM_024450821.1:c.3040T>A	XP_024306589.1:p.Phe1014Ile
XR_934495.2:n.3248T>A