Canonical Allele Identifier: CA294866161

Gene: CCDC40

Linked Data

• dbSNP Id: rs539543091
• gnomAD v2: 17-78059624-A-C
• gnomAD v3: 17-80085825-A-C
• gnomAD v4: 17-80085825-A-C
• MyVariant Identifiers: chr17:g.78059624A>C (hg19) ; chr17:g.80085825A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80085825A>C , CM000679.2:g.80085825A>C	GRCh38
NC_000017.10:g.78059624A>C , CM000679.1:g.78059624A>C	GRCh37
NC_000017.9:g.75674219A>C	NCBI36
NG_029761.1:g.54194A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2236-178A>C MANE Select	ENSP00000380679.4:n.2236-178A>C
ENST00000374877.7:c.2236-178A>C	ENSP00000364011.3:n.2236-178A>C
ENST00000397545.8:c.2236-178A>C	ENSP00000380679.4:n.2236-178A>C
ENST00000572253.5:n.863-178A>C
ENST00000574799.5:n.1773-178A>C
NM_001243342.1:c.2236-178A>C	NP_001230271.1:n.2236-178A>C
NM_017950.3:c.2236-178A>C	NP_060420.2:n.2236-178A>C
XM_011524963.1:c.2146-178A>C	XP_011523265.1:n.2146-178A>C
XM_011524964.1:c.1057-178A>C	XP_011523266.1:n.1057-178A>C
XR_934495.1:n.2267-178A>C
XM_011524963.3:c.2146-178A>C	XP_011523265.1:n.2146-178A>C
XM_011524964.3:c.1057-178A>C	XP_011523266.1:n.1057-178A>C
XM_024450821.1:c.2146-178A>C	XP_024306589.1:n.2146-178A>C
XR_001752550.2:n.2267-178A>C
XR_934495.2:n.2267-178A>C
NM_017950.4:c.2236-178A>C MANE Select	NP_060420.2:n.2236-178A>C
NM_001243342.2:c.2236-178A>C	NP_001230271.1:n.2236-178A>C