Canonical Allele Identifier: CA170716
Gene: CCDC170 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.151618215A>C
GRCh37 chr6:g.151939350A>C
gnomAD v2:
6:151939350 A / C
gnomAD v3:
6:151618215 A / C
gnomAD v4:
chr6-151618215-A-C
Joint Max Group AF 0.26547489 (EAS)
Genomes Max Group AF 0.2926182 (EAS)
Exomes Max Group AF 0.26039259 (EAS)
ClinVar RCV:
RCV000143991
ClinVar Variation:
155874
dbSNP:
3734805
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151618215A>C , CM000668.2:g.151618215A>C GRCh38
NC_000006.11:g.151939350A>C , CM000668.1:g.151939350A>C GRCh37
NC_000006.10:g.151981043A>C NCBI36
NG_021198.1:g.129176A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.*68A>C MANE Select ENSP00000239374.6:n.*68A>C
ENST00000239374.7:c.*68A>C ENSP00000239374.6:n.*68A>C
NM_025059.3:c.*68A>C NP_079335.2:n.*68A>C
XM_011536147.1:c.*68A>C XP_011534449.1:n.*68A>C
XM_011536148.1:c.*68A>C XP_011534450.1:n.*68A>C
XM_011536147.2:c.*68A>C XP_011534449.1:n.*68A>C
XM_011536148.2:c.*68A>C XP_011534450.1:n.*68A>C
NM_025059.4:c.*68A>C MANE Select NP_079335.2:n.*68A>C
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