Canonical Allele Identifier: CA401350819

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78063576C>A (hg19) ; chr17:g.80089777C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089777C>A , CM000679.2:g.80089777C>A	GRCh38
NC_000017.10:g.78063576C>A , CM000679.1:g.78063576C>A	GRCh37
NC_000017.9:g.75678171C>A	NCBI36
NG_029761.1:g.58146C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2725C>A MANE Select	ENSP00000380679.4:p.Leu909Ile
ENST00000374877.7:c.2725C>A	ENSP00000364011.3:p.Leu909Ile
ENST00000397545.8:c.2725C>A	ENSP00000380679.4:p.Leu909Ile
ENST00000572253.5:n.2976C>A
ENST00000573903.1:n.387C>A
ENST00000574799.5:n.2262C>A
ENST00000575431.1:n.369C>A
NM_001243342.1:c.2725C>A	NP_001230271.1:p.Leu909Ile
NM_017950.3:c.2725C>A	NP_060420.2:p.Leu909Ile
XM_011524963.1:c.2635C>A	XP_011523265.1:p.Leu879Ile
XM_011524964.1:c.1546C>A	XP_011523266.1:p.Leu516Ile
XR_934495.1:n.2843C>A
XM_011524963.3:c.2635C>A	XP_011523265.1:p.Leu879Ile
XM_011524964.3:c.1546C>A	XP_011523266.1:p.Leu516Ile
XM_024450821.1:c.2635C>A	XP_024306589.1:p.Leu879Ile
XR_934495.2:n.2843C>A
NM_017950.4:c.2725C>A MANE Select	NP_060420.2:p.Leu909Ile
NM_001243342.2:c.2725C>A	NP_001230271.1:p.Leu909Ile