Canonical Allele Identifier: CA343962812

Gene: CDC73

Linked Data

• ClinVar Variation Id: 858341
• ClinVar RCV Id: RCV001064191 ; RCV002365751 ; RCV002479377
• dbSNP Id: rs1675915480
• gnomAD v4: 1-193142046-A-G
• COSMIC: COSM6060239
• MyVariant Identifiers: chr1:g.193111176A>G (hg19) ; chr1:g.193142046A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.193142046A>G , CM000663.2:g.193142046A>G	GRCh38
NC_000001.10:g.193111176A>G , CM000663.1:g.193111176A>G	GRCh37
NC_000001.9:g.191377799A>G	NCBI36
NG_012691.1:g.25089A>G , LRG_507:g.25089A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367435.5:c.709A>G MANE Select	ENSP00000356405.4:p.Ile237Val
ENST00000635846.1:c.709A>G	ENSP00000490035.1:p.Ile237Val
ENST00000643006.1:c.709A>G	ENSP00000496633.1:p.Ile237Val
ENST00000643784.1:c.*185A>G	ENSP00000494944.1:n.*185A>G
ENST00000647662.1:n.610A>G
ENST00000648071.1:c.*685A>G	ENSP00000497513.1:n.*685A>G
ENST00000649606.1:n.722A>G
ENST00000649895.1:n.927A>G
ENST00000650197.1:c.709A>G	ENSP00000496929.1:p.Ile237Val
ENST00000367435.3:c.709A>G	ENSP00000356405.3:p.Ile237Val
NM_024529.4:c.709A>G , LRG_507t1:c.709A>G	NP_078805.3:p.Ile237Val
XM_006711537.2:c.709A>G	XP_006711600.1:p.Ile237Val
XM_006711537.4:c.709A>G	XP_006711600.1:p.Ile237Val
NM_024529.5:c.709A>G MANE Select	NP_078805.3:p.Ile237Val