Canonical Allele Identifier: CA152216

Gene: CDC6

Linked Data

• ClinVar Variation Id: 128636
• ClinVar RCV Id: RCV000116608 ; RCV000335023 ; RCV001515020
• dbSNP Id: rs1130199
• ExAC: 17:38447569 T / C
• gnomAD v2: 17-38447569-T-C
• gnomAD v3: 17-40291317-T-C
• gnomAD v4: 17-40291317-T-C
• MyVariant Identifiers: chr17:g.38447569T>C (hg19) ; chr17:g.40291317T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.40291317T>C , CM000679.2:g.40291317T>C	GRCh38
NC_000017.10:g.38447569T>C , CM000679.1:g.38447569T>C	GRCh37
NC_000017.9:g.35701095T>C	NCBI36
NG_028240.1:g.8424T>C
NG_028240.2:g.8439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000209728.9:c.438T>C MANE Select	ENSP00000209728.4:p.Cys146=
ENST00000649662.1:c.438T>C	ENSP00000497345.1:p.Cys146=
ENST00000209728.8:c.438T>C	ENSP00000209728.4:p.Cys146=
ENST00000580824.5:c.438T>C	ENSP00000463635.1:p.Cys146=
NM_001254.3:c.438T>C	NP_001245.1:p.Cys146=
XM_011525541.1:c.438T>C	XP_011523843.1:p.Cys146=
XM_011525542.1:c.438T>C	XP_011523844.1:p.Cys146=
NM_001254.4:c.438T>C MANE Select	NP_001245.1:p.Cys146=
XM_011525541.2:c.438T>C	XP_011523843.1:p.Cys146=