Canonical Allele Identifier: CA142717
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 48156
ClinVar RCV Id: RCV000041446 RCV001554843 RCV002054819
dbSNP Id: rs2028572
ExAC: 3:191093053 T / C
gnomAD v2: 3-191093053-T-C
gnomAD v3: 3-191375264-T-C
gnomAD v4: 3-191375264-T-C
MyVariant Identifiers: chr3:g.191093053T>C (hg19) chr3:g.191375264T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375264T>C , CM000665.2:g.191375264T>C GRCh38
NC_000003.11:g.191093053T>C , CM000665.1:g.191093053T>C GRCh37
NC_000003.10:g.192575747T>C NCBI36
NG_008994.1:g.51180T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.651T>C MANE Select ENSP00000376249.4:p.His217=
ENST00000392456.4:c.449-4895T>C ENSP00000376250.4:n.449-4895T>C
ENST00000392455.7:c.449-4895T>C ENSP00000376249.3:n.449-4895T>C
ENST00000392456.3:c.651T>C ENSP00000376250.3:p.His217=
NM_174908.3:c.449-4895T>C NP_777568.1:n.449-4895T>C
NM_178335.2:c.651T>C NP_848018.1:p.His217=
XM_011512460.1:c.651T>C XP_011510762.1:p.His217=
NM_178335.3:c.651T>C MANE Select NP_848018.1:p.His217=
NM_174908.4:c.449-4895T>C NP_777568.1:n.449-4895T>C
Search 100 bp 5'
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