Canonical Allele Identifier: CA401350813

Gene: CCDC40

Linked Data

• dbSNP Id: rs2038663471
• gnomAD v3: 17-80089775-T-C
• gnomAD v4: 17-80089775-T-C
• MyVariant Identifiers: chr17:g.78063574T>C (hg19) ; chr17:g.80089775T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80089775T>C , CM000679.2:g.80089775T>C	GRCh38
NC_000017.10:g.78063574T>C , CM000679.1:g.78063574T>C	GRCh37
NC_000017.9:g.75678169T>C	NCBI36
NG_029761.1:g.58144T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.2723T>C MANE Select	ENSP00000380679.4:p.Met908Thr
ENST00000374877.7:c.2723T>C	ENSP00000364011.3:p.Met908Thr
ENST00000397545.8:c.2723T>C	ENSP00000380679.4:p.Met908Thr
ENST00000572253.5:n.2974T>C
ENST00000573903.1:n.385T>C
ENST00000574799.5:n.2260T>C
ENST00000575431.1:n.367T>C
NM_001243342.1:c.2723T>C	NP_001230271.1:p.Met908Thr
NM_017950.3:c.2723T>C	NP_060420.2:p.Met908Thr
XM_011524963.1:c.2633T>C	XP_011523265.1:p.Met878Thr
XM_011524964.1:c.1544T>C	XP_011523266.1:p.Met515Thr
XR_934495.1:n.2841T>C
XM_011524963.3:c.2633T>C	XP_011523265.1:p.Met878Thr
XM_011524964.3:c.1544T>C	XP_011523266.1:p.Met515Thr
XM_024450821.1:c.2633T>C	XP_024306589.1:p.Met878Thr
XR_934495.2:n.2841T>C
NM_017950.4:c.2723T>C MANE Select	NP_060420.2:p.Met908Thr
NM_001243342.2:c.2723T>C	NP_001230271.1:p.Met908Thr