Canonical Allele Identifier: CA152214
Gene: CDC6 HGNC NCBI
COSMIC:
COSM4984891 (not active)
MyVariant.info:
GRCh38 chr17:g.40300899G>A
GRCh37 chr17:g.38457151G>A
Revel Score:
ENST00000209728 (MANE Select) 0.102
gnomAD v2:
17:38457151 G / A
gnomAD v3:
17:40300899 G / A
gnomAD v4:
chr17-40300899-G-A
Joint Max Group AF 0.46707892 (AFR)
Genomes Max Group AF 0.46232996 (AFR)
Exomes Max Group AF 0.46916582 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40300899G>A , CM000679.2:g.40300899G>A GRCh38
NC_000017.10:g.38457151G>A , CM000679.1:g.38457151G>A GRCh37
NC_000017.9:g.35710677G>A NCBI36
NG_028240.1:g.18006G>A
NG_028240.2:g.18021G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000209728.9:c.1321G>A MANE Select ENSP00000209728.4:p.Val441Ile
ENST00000648633.1:n.10G>A
ENST00000649662.1:c.1321G>A ENSP00000497345.1:p.Val441Ile
ENST00000209728.8:c.1321G>A ENSP00000209728.4:p.Val441Ile
NM_001254.3:c.1321G>A NP_001245.1:p.Val441Ile
XM_011525541.1:c.1441G>A XP_011523843.1:p.Val481Ile
XM_011525542.1:c.1441G>A XP_011523844.1:p.Val481Ile
NM_001254.4:c.1321G>A MANE Select NP_001245.1:p.Val441Ile
XM_011525541.2:c.1441G>A XP_011523843.1:p.Val481Ile
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