Canonical Allele Identifier: CA294858796

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80081577G>A , CM000679.2:g.80081577G>A	GRCh38
NC_000017.10:g.78055376G>A , CM000679.1:g.78055376G>A	GRCh37
NC_000017.9:g.75669971G>A	NCBI36
NG_029761.1:g.49946G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.1594G>A MANE Select	NP_060420.2:p.Gly532Ser
ENST00000397545.9:c.1594G>A MANE Select	ENSP00000380679.4:p.Gly532Ser
NM_001243342.1:c.1594G>A	NP_001230271.1:p.Gly532Ser
NM_001243342.2:c.1594G>A	NP_001230271.1:p.Gly532Ser
NM_017950.3:c.1594G>A	NP_060420.2:p.Gly532Ser
ENST00000374877.7:c.1594G>A	ENSP00000364011.3:p.Gly532Ser
ENST00000397545.8:c.1594G>A	ENSP00000380679.4:p.Gly532Ser
ENST00000572253.5:n.135G>A
ENST00000574799.5:n.1131G>A
XM_011524963.1:c.1504G>A	XP_011523265.1:p.Gly502Ser
XM_011524963.3:c.1504G>A	XP_011523265.1:p.Gly502Ser
XM_011524964.1:c.415G>A	XP_011523266.1:p.Gly139Ser
XM_011524964.3:c.415G>A	XP_011523266.1:p.Gly139Ser
XM_011524965.1:c.1594G>A	XP_011523267.1:p.Gly532Ser
XM_011524965.3:c.1594G>A	XP_011523267.1:p.Gly532Ser
XM_017024807.1:c.1594G>A	XP_016880296.1:p.Gly532Ser
XM_024450821.1:c.1504G>A	XP_024306589.1:p.Gly502Ser
XR_001752550.2:n.1625G>A
XR_934495.1:n.1625G>A
XR_934495.2:n.1625G>A