Canonical Allele Identifier: CA8542036

Gene: CDC6

Linked Data

• ClinVar Variation Id: 323058
• ClinVar RCV Id: RCV000308812 ; RCV001479997 ; RCV003940272
• dbSNP Id: rs181925915
• ExAC: 17:38450692 G / A
• gnomAD v2: 17-38450692-G-A
• gnomAD v3: 17-40294440-G-A
• gnomAD v4: 17-40294440-G-A
• MyVariant Identifiers: chr17:g.38450692G>A (hg19) ; chr17:g.40294440G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40294440G>A , CM000679.2:g.40294440G>A	GRCh38
NC_000017.10:g.38450692G>A , CM000679.1:g.38450692G>A	GRCh37
NC_000017.9:g.35704218G>A	NCBI36
NG_028240.1:g.11547G>A
NG_028240.2:g.11562G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209728.9:c.1020G>A MANE Select	ENSP00000209728.4:p.Leu340=
ENST00000649662.1:c.1020G>A	ENSP00000497345.1:p.Leu340=
ENST00000209728.8:c.1020G>A	ENSP00000209728.4:p.Leu340=
ENST00000582402.1:n.203-916G>A
NM_001254.3:c.1020G>A	NP_001245.1:p.Leu340=
XM_011525541.1:c.1020G>A	XP_011523843.1:p.Leu340=
XM_011525542.1:c.1020G>A	XP_011523844.1:p.Leu340=
NM_001254.4:c.1020G>A MANE Select	NP_001245.1:p.Leu340=
XM_011525541.2:c.1020G>A	XP_011523843.1:p.Leu340=