Canonical Allele Identifier: CA4570418
Gene: CDK5 HGNC NCBI
COSMIC:
COSN17132850 (not active)
COSN17134531 (not active)
COSN17135453 (not active)
COSN17136332 (not active)
COSN17138227 (not active)
COSN17140016 (not active)
COSN17140867 (not active)
COSN17141871 (not active)
COSN17143925 (not active)
COSN17145781 (not active)
COSN17147572 (not active)
COSN17152265 (not active)
MyVariant.info:
GRCh38 chr7:g.151054503C>A
GRCh37 chr7:g.150751590C>A
gnomAD v2:
7:150751590 C / A
gnomAD v3:
7:151054503 C / A
gnomAD v4:
chr7-151054503-C-A
Joint Max Group AF 0.41709498 (AFR)
Genomes Max Group AF 0.41396655 (AFR)
Exomes Max Group AF 0.41740023 (AFR)
dbSNP:
2069459
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.151054503C>A , CM000669.2:g.151054503C>A GRCh38
NC_000007.13:g.150751590C>A , CM000669.1:g.150751590C>A GRCh37
NC_000007.12:g.150382523C>A NCBI36
NG_042167.1:g.8463G>T
NG_051947.1:g.1304C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000485972.6:c.651-38G>T MANE Select ENSP00000419782.1:n.651-38G>T
ENST00000297518.4:c.555-38G>T ENSP00000297518.4:n.555-38G>T
ENST00000485972.5:c.651-38G>T ENSP00000419782.1:n.651-38G>T
NM_001164410.2:c.555-38G>T NP_001157882.1:n.555-38G>T
NM_004935.3:c.651-38G>T NP_004926.1:n.651-38G>T
NM_004935.4:c.651-38G>T MANE Select NP_004926.1:n.651-38G>T
NM_001164410.3:c.555-38G>T NP_001157882.1:n.555-38G>T
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