Canonical Allele Identifier: CA15244572
Gene: CCDC50 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.191380332C>T
GRCh37 chr3:g.191098121C>T
gnomAD v2:
3:191098121 C / T
gnomAD v3:
3:191380332 C / T
gnomAD v4:
chr3-191380332-C-T
Joint Max Group AF 0.80108436 (AFR)
Genomes Max Group AF 0.7990329 (AFR)
Exomes Max Group AF 0.79827013 (AFR)
ClinVar Allele:
1167988
ClinVar RCV:
RCV001535089
RCV001554849
ClinVar Variation:
1178730
dbSNP:
293814
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191380332C>T , CM000665.2:g.191380332C>T GRCh38
NC_000003.11:g.191098121C>T , CM000665.1:g.191098121C>T GRCh37
NC_000003.10:g.192580815C>T NCBI36
NG_008994.1:g.56248C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.1092+58C>T MANE Select ENSP00000376249.4:n.1092+58C>T
ENST00000392456.4:c.564+58C>T ENSP00000376250.4:n.564+58C>T
ENST00000392455.7:c.564+58C>T ENSP00000376249.3:n.564+58C>T
ENST00000392456.3:c.1092+58C>T ENSP00000376250.3:n.1092+58C>T
NM_174908.3:c.564+58C>T NP_777568.1:n.564+58C>T
NM_178335.2:c.1092+58C>T NP_848018.1:n.1092+58C>T
NM_178335.3:c.1092+58C>T MANE Select NP_848018.1:n.1092+58C>T
NM_174908.4:c.564+58C>T NP_777568.1:n.564+58C>T
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