Canonical Allele Identifier: CA2678463518
Gene: CDKN1A HGNC NCBI

Linked Data

gnomAD v4: 6-36676554-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36676554A>G , CM000668.2:g.36676554A>G GRCh38
NC_000006.11:g.36644331A>G , CM000668.1:g.36644331A>G GRCh37
NC_000006.10:g.36752309A>G NCBI36
NG_009364.1:g.2873A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000448526.6:c.-38+30A>G ENSP00000409259.3:n.-38+30A>G
ENST00000459970.1:n.27A>G
ENST00000615513.4:c.-6+30A>G ENSP00000482768.1:n.-6+30A>G
NM_001220777.1:c.-6+30A>G NP_001207706.1:n.-6+30A>G
NM_001291549.1:c.-158A>G NP_001278478.1:n.-158A>G
NM_078467.2:c.-38+30A>G NP_510867.1:n.-38+30A>G
NM_001220777.2:c.-6+30A>G NP_001207706.1:n.-6+30A>G
NM_001291549.3:c.-158A>G NP_001278478.1:n.-158A>G
NM_001374509.1:c.-66A>G NP_001361438.1:n.-66A>G
NM_001374510.1:c.18A>G NP_001361439.1:p.Arg6=
NM_078467.3:c.-38+30A>G NP_510867.1:n.-38+30A>G