Canonical Allele Identifier: CA401350779

Gene: CCDC40

Linked Data

• gnomAD v4: 17-80089770-G-C
• MyVariant Identifiers: chr17:g.78063569G>C (hg19) ; chr17:g.80089770G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089770G>C , CM000679.2:g.80089770G>C	GRCh38
NC_000017.10:g.78063569G>C , CM000679.1:g.78063569G>C	GRCh37
NC_000017.9:g.75678164G>C	NCBI36
NG_029761.1:g.58139G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2718G>C MANE Select	ENSP00000380679.4:p.Gln906His
ENST00000374877.7:c.2718G>C	ENSP00000364011.3:p.Gln906His
ENST00000397545.8:c.2718G>C	ENSP00000380679.4:p.Gln906His
ENST00000572253.5:n.2969G>C
ENST00000573903.1:n.380G>C
ENST00000574799.5:n.2255G>C
ENST00000575431.1:n.362G>C
NM_001243342.1:c.2718G>C	NP_001230271.1:p.Gln906His
NM_017950.3:c.2718G>C	NP_060420.2:p.Gln906His
XM_011524963.1:c.2628G>C	XP_011523265.1:p.Gln876His
XM_011524964.1:c.1539G>C	XP_011523266.1:p.Gln513His
XR_934495.1:n.2836G>C
XM_011524963.3:c.2628G>C	XP_011523265.1:p.Gln876His
XM_011524964.3:c.1539G>C	XP_011523266.1:p.Gln513His
XM_024450821.1:c.2628G>C	XP_024306589.1:p.Gln876His
XR_934495.2:n.2836G>C
NM_017950.4:c.2718G>C MANE Select	NP_060420.2:p.Gln906His
NM_001243342.2:c.2718G>C	NP_001230271.1:p.Gln906His