Canonical Allele Identifier: CA10647031

Gene: CCDC40

Linked Data

• ClinVar Variation Id: 325765
• ClinVar RCV Id: RCV000302253 ; RCV000394315 ; RCV001122433
• dbSNP Id: rs2289538
• gnomAD v2: 17-78074228-A-C
• gnomAD v3: 17-80100429-A-C
• gnomAD v4: 17-80100429-A-C
• MyVariant Identifiers: chr17:g.78074228A>C (hg19) ; chr17:g.80100429A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.80100429A>C , CM000679.2:g.80100429A>C	GRCh38
NC_000017.10:g.78074228A>C , CM000679.1:g.78074228A>C	GRCh37
NC_000017.9:g.75688823A>C	NCBI36
NG_009822.1:g.3874A>C , LRG_673:g.3874A>C
NG_029761.1:g.68798A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000397545.9:c.*654A>C MANE Select	ENSP00000380679.4:n.*654A>C
ENST00000397545.8:c.*654A>C	ENSP00000380679.4:n.*654A>C
ENST00000574799.5:n.3620A>C
NM_017950.3:c.*654A>C	NP_060420.2:n.*654A>C
XM_011524963.1:c.*654A>C	XP_011523265.1:n.*654A>C
XM_011524964.1:c.*654A>C	XP_011523266.1:n.*654A>C
XM_011524963.3:c.*654A>C	XP_011523265.1:n.*654A>C
XM_011524964.3:c.*654A>C	XP_011523266.1:n.*654A>C
XM_024450821.1:c.*654A>C	XP_024306589.1:n.*654A>C
XR_934495.2:n.4201A>C
NM_017950.4:c.*654A>C MANE Select	NP_060420.2:n.*654A>C