Canonical Allele Identifier: CA3780442
Gene: CDKN1A HGNC NCBI

Linked Data

dbSNP Id: rs772087100
gnomAD v2: 6-36653556-C-T
gnomAD v3: 6-36685779-C-T
gnomAD v4: 6-36685779-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36685779C>T , CM000668.2:g.36685779C>T GRCh38
NC_000006.11:g.36653556C>T , CM000668.1:g.36653556C>T GRCh37
NC_000006.10:g.36761534C>T NCBI36
NG_009364.1:g.12098C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244741.10:c.474C>T MANE Select ENSP00000244741.6:p.Ile158=
ENST00000244741.9:c.474C>T ENSP00000244741.5:p.Ile158=
ENST00000373711.3:c.474C>T ENSP00000362815.1:p.Ile158=
ENST00000405375.5:c.474C>T ENSP00000384849.1:p.Ile158=
ENST00000448526.6:c.474C>T ENSP00000409259.3:p.Ile158=
ENST00000615513.4:c.474C>T ENSP00000482768.1:p.Ile158=
NM_000389.4:c.474C>T NP_000380.1:p.Ile158=
NM_001220777.1:c.474C>T NP_001207706.1:p.Ile158=
NM_001220778.1:c.474C>T NP_001207707.1:p.Ile158=
NM_001291549.1:c.576C>T NP_001278478.1:p.Ile192=
NM_078467.2:c.474C>T NP_510867.1:p.Ile158=
NM_000389.5:c.474C>T MANE Select NP_000380.1:p.Ile158=
NM_001220777.2:c.474C>T NP_001207706.1:p.Ile158=
NM_001220778.2:c.474C>T NP_001207707.1:p.Ile158=
NM_001291549.3:c.576C>T NP_001278478.1:p.Ile192=
NM_001374509.1:c.576C>T NP_001361438.1:p.Ile192=
NM_001374510.1:c.513C>T NP_001361439.1:p.Ile171=
NM_001374511.1:c.573C>T NP_001361440.1:p.Ile191=
NM_001374512.1:c.*269C>T NP_001361441.1:n.*269C>T
NM_001374513.1:c.474C>T NP_001361442.1:p.Ile158=
NM_078467.3:c.474C>T NP_510867.1:p.Ile158=