Canonical Allele Identifier: CA12322664
Gene: CDKN1A HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.36676609C>A
GRCh37 chr6:g.36644386C>A
gnomAD v2:
6:36644386 C / A
gnomAD v3:
6:36676609 C / A
gnomAD v4:
chr6-36676609-C-A
Joint Max Group AF 0.39548227 (EAS)
Genomes Max Group AF 0.39544538 (EAS)
Exomes Max Group AF 0.08208867 (NFE)
dbSNP:
3829963
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36676609C>A , CM000668.2:g.36676609C>A GRCh38
NC_000006.11:g.36644386C>A , CM000668.1:g.36644386C>A GRCh37
NC_000006.10:g.36752364C>A NCBI36
NG_009364.1:g.2928C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000448526.6:c.-38+85C>A ENSP00000409259.3:n.-38+85C>A
ENST00000459970.1:n.43+39C>A
ENST00000615513.4:c.-6+85C>A ENSP00000482768.1:n.-6+85C>A
NM_001220777.1:c.-6+85C>A NP_001207706.1:n.-6+85C>A
NM_001291549.1:c.-142+39C>A NP_001278478.1:n.-142+39C>A
NM_078467.2:c.-38+85C>A NP_510867.1:n.-38+85C>A
NM_001220777.2:c.-6+85C>A NP_001207706.1:n.-6+85C>A
NM_001291549.3:c.-142+39C>A NP_001278478.1:n.-142+39C>A
NM_001374509.1:c.-50+39C>A NP_001361438.1:n.-50+39C>A
NM_001374510.1:c.34+39C>A NP_001361439.1:n.34+39C>A
NM_078467.3:c.-38+85C>A NP_510867.1:n.-38+85C>A
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