Canonical Allele Identifier: CA294882769

Gene: CCDC40

Linked Data

• dbSNP Id: rs1018841270
• gnomAD v3: 17-80099853-T-C
• gnomAD v4: 17-80099853-T-C
• MyVariant Identifiers: chr17:g.78073652T>C (hg19) ; chr17:g.80099853T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099853T>C , CM000679.2:g.80099853T>C	GRCh38
NC_000017.10:g.78073652T>C , CM000679.1:g.78073652T>C	GRCh37
NC_000017.9:g.75688247T>C	NCBI36
NG_009822.1:g.3298T>C , LRG_673:g.3298T>C
NG_029761.1:g.68222T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.*78T>C MANE Select	ENSP00000380679.4:n.*78T>C
ENST00000397545.8:c.*78T>C	ENSP00000380679.4:n.*78T>C
ENST00000574799.5:n.3044T>C
NM_017950.3:c.*78T>C	NP_060420.2:n.*78T>C
XM_011524963.1:c.*78T>C	XP_011523265.1:n.*78T>C
XM_011524964.1:c.*78T>C	XP_011523266.1:n.*78T>C
XM_011524963.3:c.*78T>C	XP_011523265.1:n.*78T>C
XM_011524964.3:c.*78T>C	XP_011523266.1:n.*78T>C
XM_024450821.1:c.*78T>C	XP_024306589.1:n.*78T>C
XR_934495.2:n.3625T>C
NM_017950.4:c.*78T>C MANE Select	NP_060420.2:n.*78T>C