Canonical Allele Identifier: CA2277800801

Gene: CCDC40

Linked Data

• dbSNP Id: rs1598540116

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80085814T>G , CM000679.2:g.80085814T>G	GRCh38
NC_000017.10:g.78059613T>G , CM000679.1:g.78059613T>G	GRCh37
NC_000017.9:g.75674208T>G	NCBI36
NG_029761.1:g.54183T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2236-189T>G MANE Select	ENSP00000380679.4:n.2236-189T>G
ENST00000374877.7:c.2236-189T>G	ENSP00000364011.3:n.2236-189T>G
ENST00000397545.8:c.2236-189T>G	ENSP00000380679.4:n.2236-189T>G
ENST00000572253.5:n.863-189T>G
ENST00000574799.5:n.1773-189T>G
NM_001243342.1:c.2236-189T>G	NP_001230271.1:n.2236-189T>G
NM_017950.3:c.2236-189T>G	NP_060420.2:n.2236-189T>G
XM_011524963.1:c.2146-189T>G	XP_011523265.1:n.2146-189T>G
XM_011524964.1:c.1057-189T>G	XP_011523266.1:n.1057-189T>G
XR_934495.1:n.2267-189T>G
XM_011524963.3:c.2146-189T>G	XP_011523265.1:n.2146-189T>G
XM_011524964.3:c.1057-189T>G	XP_011523266.1:n.1057-189T>G
XM_024450821.1:c.2146-189T>G	XP_024306589.1:n.2146-189T>G
XR_001752550.2:n.2267-189T>G
XR_934495.2:n.2267-189T>G
NM_017950.4:c.2236-189T>G MANE Select	NP_060420.2:n.2236-189T>G
NM_001243342.2:c.2236-189T>G	NP_001230271.1:n.2236-189T>G