Canonical Allele Identifier: CA8814736
Gene: CCDC40 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.80099792C>T
GRCh37 chr17:g.78073591C>T
gnomAD v2:
17:78073591 C / T
gnomAD v3:
17:80099792 C / T
gnomAD v4:
chr17-80099792-C-T
Joint Max Group AF 0.00079897 (NFE)
Genomes Max Group AF 0.00059874 (NFE)
Exomes Max Group AF 0.00080202 (NFE)
ClinVar RCV:
RCV000252037
RCV001126070
ClinVar Variation:
260944
dbSNP:
202179507
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.80099792C>T , CM000679.2:g.80099792C>T GRCh38
NC_000017.10:g.78073591C>T , CM000679.1:g.78073591C>T GRCh37
NC_000017.9:g.75688186C>T NCBI36
NG_009822.1:g.3237C>T , LRG_673:g.3237C>T
NG_029761.1:g.68161C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397545.9:c.*17C>T MANE Select ENSP00000380679.4:n.*17C>T
ENST00000397545.8:c.*17C>T ENSP00000380679.4:n.*17C>T
ENST00000574799.5:n.2983C>T
NM_017950.3:c.*17C>T NP_060420.2:n.*17C>T
XM_011524963.1:c.*17C>T XP_011523265.1:n.*17C>T
XM_011524964.1:c.*17C>T XP_011523266.1:n.*17C>T
XM_011524963.3:c.*17C>T XP_011523265.1:n.*17C>T
XM_011524964.3:c.*17C>T XP_011523266.1:n.*17C>T
XM_024450821.1:c.*17C>T XP_024306589.1:n.*17C>T
XR_934495.2:n.3564C>T
NM_017950.4:c.*17C>T MANE Select NP_060420.2:n.*17C>T
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