Canonical Allele Identifier: CA2755333
Gene: CCDC50 HGNC NCBI

Linked Data

ClinVar Variation Id: 2370846
ClinVar RCV Id: RCV003548936 RCV004207644
dbSNP Id: rs745516287
ExAC: 3:191093202 A / G
gnomAD v2: 3-191093202-A-G
gnomAD v3: 3-191375413-A-G
gnomAD v4: 3-191375413-A-G
MyVariant Identifiers: chr3:g.191093202A>G (hg19) chr3:g.191375413A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.191375413A>G , CM000665.2:g.191375413A>G GRCh38
NC_000003.11:g.191093202A>G , CM000665.1:g.191093202A>G GRCh37
NC_000003.10:g.192575896A>G NCBI36
NG_008994.1:g.51329A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000392455.9:c.800A>G MANE Select ENSP00000376249.4:p.Lys267Arg
ENST00000392456.4:c.449-4746A>G ENSP00000376250.4:n.449-4746A>G
ENST00000392455.7:c.449-4746A>G ENSP00000376249.3:n.449-4746A>G
ENST00000392456.3:c.800A>G ENSP00000376250.3:p.Lys267Arg
NM_174908.3:c.449-4746A>G NP_777568.1:n.449-4746A>G
NM_178335.2:c.800A>G NP_848018.1:p.Lys267Arg
XM_011512460.1:c.800A>G XP_011510762.1:p.Lys267Arg
NM_178335.3:c.800A>G MANE Select NP_848018.1:p.Lys267Arg
NM_174908.4:c.449-4746A>G NP_777568.1:n.449-4746A>G
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