Canonical Allele Identifier: CA376977119
Gene: CCDC6 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.59804429T>G
GRCh37 chr10:g.61564187T>G
Revel Score:
ENST00000263102 (MANE Select) 0.200
gnomAD v2:
10:61564187 T / G
gnomAD v3:
10:59804429 T / G
gnomAD v4:
chr10-59804429-T-G
Joint Max Group AF 0.0000348 (AFR)
Genomes Max Group AF 0.00003251 (AFR)
Exomes Max Group AF 0.00000995 (AFR)
ClinVar Allele:
2314729
ClinVar RCV:
RCV004170873
ClinVar Variation:
2323239
dbSNP:
754442755
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.59804429T>G , CM000672.2:g.59804429T>G GRCh38
NC_000010.10:g.61564187T>G , CM000672.1:g.61564187T>G GRCh37
NC_000010.9:g.61234193T>G NCBI36
NG_027819.1:g.107228A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000263102.7:c.1096A>C MANE Select ENSP00000263102.6:p.Ile366Leu
ENST00000263102.6:c.1096A>C ENSP00000263102.6:p.Ile366Leu
ENST00000491922.1:n.1148A>C
NM_005436.4:c.1096A>C NP_005427.2:p.Ile366Leu
NM_005436.5:c.1096A>C MANE Select NP_005427.2:p.Ile366Leu
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