Canonical Allele Identifier: CA401344315

Gene: CCDC40

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80036665G>A , CM000679.2:g.80036665G>A	GRCh38
NC_000017.10:g.78010464G>A , CM000679.1:g.78010464G>A	GRCh37
NC_000017.9:g.75625059G>A	NCBI36
NG_029761.1:g.5034G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_017950.4:c.3G>A MANE Select	NP_060420.2:p.Met1Ile
ENST00000397545.9:c.3G>A MANE Select	ENSP00000380679.4:p.Met1Ile
NM_001243342.1:c.3G>A	NP_001230271.1:p.Met1Ile
NM_001243342.2:c.3G>A	NP_001230271.1:p.Met1Ile
NM_001330508.1:c.3G>A	NP_001317437.1:p.Met1Ile
NM_001330508.2:c.3G>A	NP_001317437.1:p.Met1Ile
NM_017950.3:c.3G>A	NP_060420.2:p.Met1Ile
ENST00000269318.9:c.3G>A	ENSP00000269318.5:p.Met1Ile
ENST00000374876.4:c.3G>A	ENSP00000364010.4:p.Met1Ile
ENST00000374877.7:c.3G>A	ENSP00000364011.3:p.Met1Ile
ENST00000397545.8:c.3G>A	ENSP00000380679.4:p.Met1Ile
ENST00000572083.5:n.2G>A
ENST00000572270.1:n.14G>A
ENST00000574099.1:c.-154G>A	ENSP00000460002.1:n.-154G>A
ENST00000576033.5:c.-165G>A	ENSP00000459489.1:n.-165G>A
XM_005257492.3:c.3G>A	XP_005257549.1:p.Met1Ile
XM_011524963.1:c.-154G>A	XP_011523265.1:n.-154G>A
XM_011524963.3:c.-154G>A	XP_011523265.1:n.-154G>A
XM_011524965.1:c.3G>A	XP_011523267.1:p.Met1Ile
XM_011524965.3:c.3G>A	XP_011523267.1:p.Met1Ile
XM_017024807.1:c.3G>A	XP_016880296.1:p.Met1Ile
XR_001752550.2:n.34G>A
XR_934495.1:n.34G>A
XR_934495.2:n.34G>A