Canonical Allele Identifier: CA142716

Gene: CCDC50

Linked Data

• ClinVar Variation Id: 48155
• ClinVar RCV Id: RCV000041445 ; RCV001554842 ; RCV002054818
• dbSNP Id: rs188384
• ExAC: 3:191074873 C / G
• gnomAD v2: 3-191074873-C-G
• gnomAD v3: 3-191357084-C-G
• gnomAD v4: 3-191357084-C-G
• MyVariant Identifiers: chr3:g.191074873C>G (hg19) ; chr3:g.191357084C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191357084C>G , CM000665.2:g.191357084C>G	GRCh38
NC_000003.11:g.191074873C>G , CM000665.1:g.191074873C>G	GRCh37
NC_000003.10:g.192557567C>G	NCBI36
NG_008994.1:g.33000C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392455.9:c.50-4C>G MANE Select	ENSP00000376249.4:n.50-4C>G
ENST00000392456.4:c.50-4C>G	ENSP00000376250.4:n.50-4C>G
ENST00000392455.7:c.50-4C>G	ENSP00000376249.3:n.50-4C>G
ENST00000392456.3:c.50-4C>G	ENSP00000376250.3:n.50-4C>G
NM_174908.3:c.50-4C>G	NP_777568.1:n.50-4C>G
NM_178335.2:c.50-4C>G	NP_848018.1:n.50-4C>G
XM_011512460.1:c.50-4C>G	XP_011510762.1:n.50-4C>G
NM_178335.3:c.50-4C>G MANE Select	NP_848018.1:n.50-4C>G
NM_174908.4:c.50-4C>G	NP_777568.1:n.50-4C>G