Canonical Allele Identifier: CA15612390
Gene: CCDC171 HGNC NCBI
COSMIC:
COSN14779565 (not active)
MyVariant.info:
GRCh38 chr9:g.15986718T>C
GRCh37 chr9:g.15986716T>C
gnomAD v2:
9:15986716 T / C
gnomAD v3:
9:15986718 T / C
gnomAD v4:
chr9-15986718-T-C
Joint Max Group AF 0.69832896 (AFR)
Genomes Max Group AF 0.69832896 (AFR)
dbSNP:
1927702
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Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.15986718T>C , CM000671.2:g.15986718T>C GRCh38
NC_000009.11:g.15986716T>C , CM000671.1:g.15986716T>C GRCh37
NC_000009.10:g.15976716T>C NCBI36
NG_052634.1:g.438845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000486641.2:n.369-33871T>C
XM_017014432.2:c.3870-31585T>C XP_016869921.1:n.3870-31585T>C
XM_017014437.2:c.3778-35614T>C XP_016869926.1:n.3778-35614T>C
XR_001746227.2:n.4248-49375T>C
XR_001746228.2:n.4248-35614T>C
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