Canonical Allele Identifier: CA12213281
Gene: CCDC170 HGNC NCBI
COSMIC:
COSN14920957 (not active)
MyVariant.info:
GRCh38 chr6:g.151574321G>C
GRCh37 chr6:g.151895456G>C
gnomAD v2:
6:151895456 G / C
gnomAD v3:
6:151574321 G / C
gnomAD v4:
chr6-151574321-G-C
Joint Max Group AF 0.58981223 (NFE)
Genomes Max Group AF 0.58981223 (NFE)
dbSNP:
6909279
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.151574321G>C , CM000668.2:g.151574321G>C GRCh38
NC_000006.11:g.151895456G>C , CM000668.1:g.151895456G>C GRCh37
NC_000006.10:g.151937149G>C NCBI36
NG_021198.1:g.85282G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000239374.8:c.1092+830G>C MANE Select ENSP00000239374.6:n.1092+830G>C
ENST00000239374.7:c.1092+830G>C ENSP00000239374.6:n.1092+830G>C
NM_025059.3:c.1092+830G>C NP_079335.2:n.1092+830G>C
XM_011536147.1:c.1110+830G>C XP_011534449.1:n.1110+830G>C
XM_011536148.1:c.1110+830G>C XP_011534450.1:n.1110+830G>C
XM_011536147.2:c.1110+830G>C XP_011534449.1:n.1110+830G>C
XM_011536148.2:c.1110+830G>C XP_011534450.1:n.1110+830G>C
NM_025059.4:c.1092+830G>C MANE Select NP_079335.2:n.1092+830G>C
Search 100 bp 5'
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