Canonical Allele Identifier: CA170714
Gene: CCDC170 HGNC NCBI
COSMIC:
COSM3761553 (not active)
MyVariant.info:
GRCh38 chr6:g.151615542G>A
GRCh37 chr6:g.151936677G>A
Revel Score:
ENST00000239374 (MANE Select) 0.044
ENST00000367290 0.044
gnomAD v2:
6:151936677 G / A
gnomAD v3:
6:151615542 G / A
gnomAD v4:
chr6-151615542-G-A
Joint Max Group AF 0.4942566 (AFR)
Genomes Max Group AF 0.49305307 (AFR)
Exomes Max Group AF 0.49184899 (AFR)
ClinVar RCV:
RCV000143990
RCV001777151
ClinVar Variation:
155873
dbSNP:
6929137
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151615542G>A , CM000668.2:g.151615542G>A GRCh38
NC_000006.11:g.151936677G>A , CM000668.1:g.151936677G>A GRCh37
NC_000006.10:g.151978370G>A NCBI36
NG_021198.1:g.126503G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.1810G>A MANE Select ENSP00000239374.6:p.Val604Ile
ENST00000239374.7:c.1810G>A ENSP00000239374.6:p.Val604Ile
NM_025059.3:c.1810G>A NP_079335.2:p.Val604Ile
XM_011536147.1:c.1828G>A XP_011534449.1:p.Val610Ile
XM_011536148.1:c.1627G>A XP_011534450.1:p.Val543Ile
XM_011536147.2:c.1828G>A XP_011534449.1:p.Val610Ile
XM_011536148.2:c.1627G>A XP_011534450.1:p.Val543Ile
XR_001743865.1:n.129+1179C>T
NM_025059.4:c.1810G>A MANE Select NP_079335.2:p.Val604Ile
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