Canonical Allele Identifier: CA2678466234
Gene: CDKN1A HGNC NCBI

Linked Data

gnomAD v4: 6-36680890-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36680890G>T , CM000668.2:g.36680890G>T GRCh38
NC_000006.11:g.36648667G>T , CM000668.1:g.36648667G>T GRCh37
NC_000006.10:g.36756645G>T NCBI36
NG_009364.1:g.7209G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000244741.10:c.-6+2092G>T MANE Select ENSP00000244741.6:n.-6+2092G>T
ENST00000244741.9:c.-6+2092G>T ENSP00000244741.5:n.-6+2092G>T
ENST00000373711.3:c.-96-1750G>T ENSP00000362815.1:n.-96-1750G>T
ENST00000405375.5:c.-6+1951G>T ENSP00000384849.1:n.-6+1951G>T
ENST00000448526.6:c.-6+2957G>T ENSP00000409259.3:n.-6+2957G>T
ENST00000459970.1:n.189+2957G>T
ENST00000478800.1:n.214+1951G>T
ENST00000615513.4:c.-5-3207G>T ENSP00000482768.1:n.-5-3207G>T
NM_000389.4:c.-6+2092G>T NP_000380.1:n.-6+2092G>T
NM_001220777.1:c.-5-3207G>T NP_001207706.1:n.-5-3207G>T
NM_001220778.1:c.-6+1951G>T NP_001207707.1:n.-6+1951G>T
NM_001291549.1:c.97+2957G>T NP_001278478.1:n.97+2957G>T
NM_078467.2:c.-6+2957G>T NP_510867.1:n.-6+2957G>T
XM_011515041.1:c.*36G>T XP_011513343.1:n.*36G>T
NM_000389.5:c.-6+2092G>T MANE Select NP_000380.1:n.-6+2092G>T
NM_001220777.2:c.-5-3207G>T NP_001207706.1:n.-5-3207G>T
NM_001220778.2:c.-6+1951G>T NP_001207707.1:n.-6+1951G>T
NM_001291549.3:c.97+2957G>T NP_001278478.1:n.97+2957G>T
NM_001374509.1:c.97+2957G>T NP_001361438.1:n.97+2957G>T
NM_001374510.1:c.35-3207G>T NP_001361439.1:n.35-3207G>T
NM_001374511.1:c.-6+2092G>T NP_001361440.1:n.-6+2092G>T
NM_001374512.1:c.-6+2092G>T NP_001361441.1:n.-6+2092G>T
NM_001374513.1:c.-6+1985G>T NP_001361442.1:n.-6+1985G>T
NM_078467.3:c.-6+2957G>T NP_510867.1:n.-6+2957G>T