Canonical Allele Identifier: CA137415213
Gene: CDKN1A HGNC NCBI

Linked Data

dbSNP Id: rs954436002
gnomAD v2: 6-36644426-T-C
gnomAD v3: 6-36676649-T-C
gnomAD v4: 6-36676649-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.36676649T>C , CM000668.2:g.36676649T>C GRCh38
NC_000006.11:g.36644426T>C , CM000668.1:g.36644426T>C GRCh37
NC_000006.10:g.36752404T>C NCBI36
NG_009364.1:g.2968T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000448526.6:c.-38+125T>C ENSP00000409259.3:n.-38+125T>C
ENST00000459970.1:n.43+79T>C
ENST00000615513.4:c.-6+125T>C ENSP00000482768.1:n.-6+125T>C
NM_001220777.1:c.-6+125T>C NP_001207706.1:n.-6+125T>C
NM_001291549.1:c.-142+79T>C NP_001278478.1:n.-142+79T>C
NM_078467.2:c.-38+125T>C NP_510867.1:n.-38+125T>C
NM_001220777.2:c.-6+125T>C NP_001207706.1:n.-6+125T>C
NM_001291549.3:c.-142+79T>C NP_001278478.1:n.-142+79T>C
NM_001374509.1:c.-50+79T>C NP_001361438.1:n.-50+79T>C
NM_001374510.1:c.34+79T>C NP_001361439.1:n.34+79T>C
NM_078467.3:c.-38+125T>C NP_510867.1:n.-38+125T>C