Canonical Allele Identifier: CA142725

Gene: CCDC50

Linked Data

• ClinVar Variation Id: 48160
• ClinVar RCV Id: RCV000041450 ; RCV001554846 ; RCV002054823
• dbSNP Id: rs4677729
• ExAC: 3:191093384 A / G
• gnomAD v2: 3-191093384-A-G
• gnomAD v3: 3-191375595-A-G
• gnomAD v4: 3-191375595-A-G
• MyVariant Identifiers: chr3:g.191093384A>G (hg19) ; chr3:g.191375595A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.191375595A>G , CM000665.2:g.191375595A>G	GRCh38
NC_000003.11:g.191093384A>G , CM000665.1:g.191093384A>G	GRCh37
NC_000003.10:g.192576078A>G	NCBI36
NG_008994.1:g.51511A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000392455.9:c.976+6A>G MANE Select	ENSP00000376249.4:n.976+6A>G
ENST00000392456.4:c.449-4564A>G	ENSP00000376250.4:n.449-4564A>G
ENST00000392455.7:c.449-4564A>G	ENSP00000376249.3:n.449-4564A>G
ENST00000392456.3:c.976+6A>G	ENSP00000376250.3:n.976+6A>G
NM_174908.3:c.449-4564A>G	NP_777568.1:n.449-4564A>G
NM_178335.2:c.976+6A>G	NP_848018.1:n.976+6A>G
XM_011512460.1:c.976+6A>G	XP_011510762.1:n.976+6A>G
NM_178335.3:c.976+6A>G MANE Select	NP_848018.1:n.976+6A>G
NM_174908.4:c.449-4564A>G	NP_777568.1:n.449-4564A>G