Canonical Allele Identifier: CA8542161
Gene: CDC6 HGNC NCBI

Linked Data

ClinVar Variation Id: 323059
ClinVar RCV Id: RCV000401557 RCV000903982
dbSNP Id: rs4135031
ExAC: 17:38457779 A / G
gnomAD v2: 17-38457779-A-G
gnomAD v3: 17-40301527-A-G
gnomAD v4: 17-40301527-A-G
MyVariant Identifiers: chr17:g.38457779A>G (hg19) chr17:g.40301527A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40301527A>G , CM000679.2:g.40301527A>G GRCh38
NC_000017.10:g.38457779A>G , CM000679.1:g.38457779A>G GRCh37
NC_000017.9:g.35711305A>G NCBI36
NG_028240.1:g.18634A>G
NG_028240.2:g.18649A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000209728.9:c.1512A>G MANE Select ENSP00000209728.4:p.Ser504=
ENST00000648633.1:n.638A>G
ENST00000649662.1:c.1512A>G ENSP00000497345.1:p.Ser504=
ENST00000209728.8:c.1512A>G ENSP00000209728.4:p.Ser504=
NM_001254.3:c.1512A>G NP_001245.1:p.Ser504=
XM_011525541.1:c.1632A>G XP_011523843.1:p.Ser544=
XM_011525542.1:c.1632A>G XP_011523844.1:p.Ser544=
NM_001254.4:c.1512A>G MANE Select NP_001245.1:p.Ser504=
XM_011525541.2:c.1632A>G XP_011523843.1:p.Ser544=
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