Canonical Allele Identifier: CA2755292
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 228479
ClinVar RCV Id: RCV000218594 RCV001668384
dbSNP Id: rs138153104
ExAC: 3:191093019 C / T
gnomAD v2: 3-191093019-C-T
gnomAD v3: 3-191375230-C-T
gnomAD v4: 3-191375230-C-T
MyVariant Identifiers: chr3:g.191093019C>T (hg19) chr3:g.191375230C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375230C>T , CM000665.2:g.191375230C>T GRCh38
NC_000003.11:g.191093019C>T , CM000665.1:g.191093019C>T GRCh37
NC_000003.10:g.192575713C>T NCBI36
NG_008994.1:g.51146C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.617C>T MANE Select ENSP00000376249.4:p.Ser206Phe
ENST00000392456.4:c.449-4929C>T ENSP00000376250.4:n.449-4929C>T
ENST00000392455.7:c.449-4929C>T ENSP00000376249.3:n.449-4929C>T
ENST00000392456.3:c.617C>T ENSP00000376250.3:p.Ser206Phe
NM_174908.3:c.449-4929C>T NP_777568.1:n.449-4929C>T
NM_178335.2:c.617C>T NP_848018.1:p.Ser206Phe
XM_011512460.1:c.617C>T XP_011510762.1:p.Ser206Phe
NM_178335.3:c.617C>T MANE Select NP_848018.1:p.Ser206Phe
NM_174908.4:c.449-4929C>T NP_777568.1:n.449-4929C>T
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