Canonical Allele Identifier: CA401350832

Gene: CCDC40

Linked Data

• dbSNP Id: rs1156666517
• gnomAD v2: 17-78063577-T-G
• gnomAD v4: 17-80089778-T-G
• MyVariant Identifiers: chr17:g.78063577T>G (hg19) ; chr17:g.80089778T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089778T>G , CM000679.2:g.80089778T>G	GRCh38
NC_000017.10:g.78063577T>G , CM000679.1:g.78063577T>G	GRCh37
NC_000017.9:g.75678172T>G	NCBI36
NG_029761.1:g.58147T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2726T>G MANE Select	ENSP00000380679.4:p.Leu909Arg
ENST00000374877.7:c.2726T>G	ENSP00000364011.3:p.Leu909Arg
ENST00000397545.8:c.2726T>G	ENSP00000380679.4:p.Leu909Arg
ENST00000572253.5:n.2977T>G
ENST00000573903.1:n.388T>G
ENST00000574799.5:n.2263T>G
ENST00000575431.1:n.370T>G
NM_001243342.1:c.2726T>G	NP_001230271.1:p.Leu909Arg
NM_017950.3:c.2726T>G	NP_060420.2:p.Leu909Arg
XM_011524963.1:c.2636T>G	XP_011523265.1:p.Leu879Arg
XM_011524964.1:c.1547T>G	XP_011523266.1:p.Leu516Arg
XR_934495.1:n.2844T>G
XM_011524963.3:c.2636T>G	XP_011523265.1:p.Leu879Arg
XM_011524964.3:c.1547T>G	XP_011523266.1:p.Leu516Arg
XM_024450821.1:c.2636T>G	XP_024306589.1:p.Leu879Arg
XR_934495.2:n.2844T>G
NM_017950.4:c.2726T>G MANE Select	NP_060420.2:p.Leu909Arg
NM_001243342.2:c.2726T>G	NP_001230271.1:p.Leu909Arg