Canonical Allele Identifier: CA10651244

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 325752
• ClinVar RCV Id: RCV000381975 ; RCV000383550 ; RCV001128161 ; RCV001653588
• dbSNP Id: rs2304852
• gnomAD v2: 17-78073723-T-C
• gnomAD v3: 17-80099924-T-C
• gnomAD v4: 17-80099924-T-C
• MyVariant Identifiers: chr17:g.78073723T>C (hg19) ; chr17:g.80099924T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80099924T>C , CM000679.2:g.80099924T>C	GRCh38
NC_000017.10:g.78073723T>C , CM000679.1:g.78073723T>C	GRCh37
NC_000017.9:g.75688318T>C	NCBI36
NG_009822.1:g.3369T>C , LRG_673:g.3369T>C
NG_029761.1:g.68293T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.*149T>C MANE Select	ENSP00000380679.4:n.*149T>C
ENST00000397545.8:c.*149T>C	ENSP00000380679.4:n.*149T>C
ENST00000574799.5:n.3115T>C
NM_017950.3:c.*149T>C	NP_060420.2:n.*149T>C
XM_011524963.1:c.*149T>C	XP_011523265.1:n.*149T>C
XM_011524964.1:c.*149T>C	XP_011523266.1:n.*149T>C
XM_011524963.3:c.*149T>C	XP_011523265.1:n.*149T>C
XM_011524964.3:c.*149T>C	XP_011523266.1:n.*149T>C
XM_024450821.1:c.*149T>C	XP_024306589.1:n.*149T>C
XR_934495.2:n.3696T>C
NM_017950.4:c.*149T>C MANE Select	NP_060420.2:n.*149T>C