Canonical Allele Identifier: CA401324507

Gene: CCDC40

Linked Data

• MyVariant Identifiers: chr17:g.78032708A>T (hg19) ; chr17:g.80058909A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80058909A>T , CM000679.2:g.80058909A>T	GRCh38
NC_000017.10:g.78032708A>T , CM000679.1:g.78032708A>T	GRCh37
NC_000017.9:g.75647303A>T	NCBI36
NG_029761.1:g.27278A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1369A>T MANE Select	ENSP00000380679.4:p.Ile457Phe
ENST00000269318.9:c.1369A>T	ENSP00000269318.5:p.Ile457Phe
ENST00000374876.4:c.1317+258A>T	ENSP00000364010.4:n.1317+258A>T
ENST00000374877.7:c.1369A>T	ENSP00000364011.3:p.Ile457Phe
ENST00000397545.8:c.1369A>T	ENSP00000380679.4:p.Ile457Phe
ENST00000574799.5:n.906A>T
NM_001243342.1:c.1369A>T	NP_001230271.1:p.Ile457Phe
NM_017950.3:c.1369A>T	NP_060420.2:p.Ile457Phe
XM_005257492.3:c.1369A>T	XP_005257549.1:p.Ile457Phe
XM_011524963.1:c.1279A>T	XP_011523265.1:p.Ile427Phe
XM_011524964.1:c.190A>T	XP_011523266.1:p.Ile64Phe
XM_011524965.1:c.1369A>T	XP_011523267.1:p.Ile457Phe
XR_934495.1:n.1400A>T
NM_001330508.1:c.1369A>T	NP_001317437.1:p.Ile457Phe
XM_011524963.3:c.1279A>T	XP_011523265.1:p.Ile427Phe
XM_011524964.3:c.190A>T	XP_011523266.1:p.Ile64Phe
XM_011524965.3:c.1369A>T	XP_011523267.1:p.Ile457Phe
XM_017024807.1:c.1369A>T	XP_016880296.1:p.Ile457Phe
XM_024450821.1:c.1279A>T	XP_024306589.1:p.Ile427Phe
XR_001752550.2:n.1400A>T
XR_934495.2:n.1400A>T
NM_017950.4:c.1369A>T MANE Select	NP_060420.2:p.Ile457Phe
NM_001330508.2:c.1369A>T	NP_001317437.1:p.Ile457Phe
NM_001243342.2:c.1369A>T	NP_001230271.1:p.Ile457Phe