Canonical Allele Identifier: CA3780279
Gene: CDKN1A HGNC NCBI
DINOL HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.36677811A>T
GRCh37 chr6:g.36645588A>T
gnomAD v2:
6:36645588 A / T
gnomAD v3:
6:36677811 A / T
gnomAD v4:
chr6-36677811-A-T
Joint Max Group AF 0.00002552 (NFE)
Genomes Max Group AF 0.00003763 (NFE)
Exomes Max Group AF 0.00002155 (NFE)
dbSNP:
762624
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36677811A>T , CM000668.2:g.36677811A>T GRCh38
NC_000006.11:g.36645588A>T , CM000668.1:g.36645588A>T GRCh37
NC_000006.10:g.36753566A>T NCBI36
NG_009364.1:g.4130A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000448526.6:c.-37-91A>T (CDKN1A) ENSP00000409259.3:n.-37-91A>T
ENST00000459970.1:n.67A>T (CDKN1A)
ENST00000615513.4:c.-6+1287A>T (CDKN1A) ENSP00000482768.1:n.-6+1287A>T
NM_001220777.1:c.-6+1287A>T (CDKN1A) NP_001207706.1:n.-6+1287A>T
NM_001291549.1:c.-26A>T (CDKN1A) NP_001278478.1:n.-26A>T
NM_078467.2:c.-37-91A>T (CDKN1A) NP_510867.1:n.-37-91A>T
NR_144384.1:n.749T>A (DINOL)
NM_001220777.2:c.-6+1287A>T (CDKN1A) NP_001207706.1:n.-6+1287A>T
NM_001291549.3:c.-26A>T (CDKN1A) NP_001278478.1:n.-26A>T
NM_001374509.1:c.-26A>T (CDKN1A) NP_001361438.1:n.-26A>T
NM_001374510.1:c.34+1241A>T (CDKN1A) NP_001361439.1:n.34+1241A>T
NM_078467.3:c.-37-91A>T (CDKN1A) NP_510867.1:n.-37-91A>T
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