Canonical Allele Identifier: CA3780287
Gene: CDKN1A HGNC NCBI
DINOL HGNC NCBI
COSMIC:
COSM5480661 (not active)
MyVariant.info:
GRCh38 chr6:g.36677919A>G
GRCh37 chr6:g.36645696A>G
Revel Score:
ENST00000448526 0.170
gnomAD v2:
6:36645696 A / G
gnomAD v3:
6:36677919 A / G
gnomAD v4:
chr6-36677919-A-G
Joint Max Group AF 0.68455118 (AFR)
Genomes Max Group AF 0.67891212 (AFR)
Exomes Max Group AF 0.68782151 (AFR)
dbSNP:
2395655
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36677919A>G , CM000668.2:g.36677919A>G GRCh38
NC_000006.11:g.36645696A>G , CM000668.1:g.36645696A>G GRCh37
NC_000006.10:g.36753674A>G NCBI36
NG_009364.1:g.4238A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000448526.6:c.-20A>G (CDKN1A) ENSP00000409259.3:n.-20A>G
ENST00000459970.1:n.175A>G (CDKN1A)
ENST00000615513.4:c.-6+1395A>G (CDKN1A) ENSP00000482768.1:n.-6+1395A>G
NM_001220777.1:c.-6+1395A>G (CDKN1A) NP_001207706.1:n.-6+1395A>G
NM_001291549.1:c.83A>G (CDKN1A) NP_001278478.1:p.Asp28Gly
NM_078467.2:c.-20A>G (CDKN1A) NP_510867.1:n.-20A>G
NR_144384.1:n.641T>C (DINOL)
NM_001220777.2:c.-6+1395A>G (CDKN1A) NP_001207706.1:n.-6+1395A>G
NM_001291549.3:c.83A>G (CDKN1A) NP_001278478.1:p.Asp28Gly
NM_001374509.1:c.83A>G (CDKN1A) NP_001361438.1:p.Asp28Gly
NM_001374510.1:c.34+1349A>G (CDKN1A) NP_001361439.1:n.34+1349A>G
NM_078467.3:c.-20A>G (CDKN1A) NP_510867.1:n.-20A>G
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