Canonical Allele Identifier: CA401324506

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80058909-A-C
• MyVariant Identifiers: chr17:g.78032708A>C (hg19) ; chr17:g.80058909A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000397545.9:c.1369A>C MANE Select	ENSP00000380679.4:p.Ile457Leu
ENST00000269318.9:c.1369A>C	ENSP00000269318.5:p.Ile457Leu
ENST00000374876.4:c.1317+258A>C	ENSP00000364010.4:n.1317+258A>C
ENST00000374877.7:c.1369A>C	ENSP00000364011.3:p.Ile457Leu
ENST00000397545.8:c.1369A>C	ENSP00000380679.4:p.Ile457Leu
ENST00000574799.5:n.906A>C
NM_001243342.1:c.1369A>C	NP_001230271.1:p.Ile457Leu
NM_017950.3:c.1369A>C	NP_060420.2:p.Ile457Leu
XM_005257492.3:c.1369A>C	XP_005257549.1:p.Ile457Leu
XM_011524963.1:c.1279A>C	XP_011523265.1:p.Ile427Leu
XM_011524964.1:c.190A>C	XP_011523266.1:p.Ile64Leu
XM_011524965.1:c.1369A>C	XP_011523267.1:p.Ile457Leu
XR_934495.1:n.1400A>C
NM_001330508.1:c.1369A>C	NP_001317437.1:p.Ile457Leu
XM_011524963.3:c.1279A>C	XP_011523265.1:p.Ile427Leu
XM_011524964.3:c.190A>C	XP_011523266.1:p.Ile64Leu
XM_011524965.3:c.1369A>C	XP_011523267.1:p.Ile457Leu
XM_017024807.1:c.1369A>C	XP_016880296.1:p.Ile457Leu
XM_024450821.1:c.1279A>C	XP_024306589.1:p.Ile427Leu
XR_001752550.2:n.1400A>C
XR_934495.2:n.1400A>C
NM_017950.4:c.1369A>C MANE Select	NP_060420.2:p.Ile457Leu
NM_001330508.2:c.1369A>C	NP_001317437.1:p.Ile457Leu
NM_001243342.2:c.1369A>C	NP_001230271.1:p.Ile457Leu