Canonical Allele Identifier: CA2755304
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 2442773
ClinVar RCV Id: RCV003149545
dbSNP Id: rs567369598
ExAC: 3:191093071 T / G
gnomAD v2: 3-191093071-T-G
gnomAD v3: 3-191375282-T-G
gnomAD v4: 3-191375282-T-G
MyVariant Identifiers: chr3:g.191093071T>G (hg19) chr3:g.191375282T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375282T>G , CM000665.2:g.191375282T>G GRCh38
NC_000003.11:g.191093071T>G , CM000665.1:g.191093071T>G GRCh37
NC_000003.10:g.192575765T>G NCBI36
NG_008994.1:g.51198T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.669T>G MANE Select ENSP00000376249.4:p.His223Gln
ENST00000392456.4:c.449-4877T>G ENSP00000376250.4:n.449-4877T>G
ENST00000392455.7:c.449-4877T>G ENSP00000376249.3:n.449-4877T>G
ENST00000392456.3:c.669T>G ENSP00000376250.3:p.His223Gln
NM_174908.3:c.449-4877T>G NP_777568.1:n.449-4877T>G
NM_178335.2:c.669T>G NP_848018.1:p.His223Gln
XM_011512460.1:c.669T>G XP_011510762.1:p.His223Gln
NM_178335.3:c.669T>G MANE Select NP_848018.1:p.His223Gln
NM_174908.4:c.449-4877T>G NP_777568.1:n.449-4877T>G
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