Canonical Allele Identifier: CA383967852
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1415563
ClinVar RCV Id: RCV001933141 RCV002359418
dbSNP Id: rs2136355327
gnomAD v4: 12-12717844-C-T
COSMIC: COSM1746836
MyVariant Identifiers: chr12:g.12870778C>T (hg19) chr12:g.12717844C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717844C>T , CM000674.2:g.12717844C>T GRCh38
NC_000012.11:g.12870778C>T , CM000674.1:g.12870778C>T GRCh37
NC_000012.10:g.12762045C>T NCBI36
NG_016341.1:g.5477C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.5C>T ENSP00000507272.1:p.Ser2Leu
ENST00000682620.1:n.1631-981C>T
ENST00000684771.1:n.585-981C>T
ENST00000228872.9:c.5C>T MANE Select ENSP00000228872.4:p.Ser2Leu
ENST00000228872.8:c.5C>T ENSP00000228872.4:p.Ser2Leu
ENST00000396340.1:c.5C>T ENSP00000379629.1:p.Ser2Leu
ENST00000477087.1:n.155-981C>T
NM_004064.4:c.5C>T NP_004055.1:p.Ser2Leu
NM_004064.5:c.5C>T MANE Select NP_004055.1:p.Ser2Leu
Search 100 bp 5'
Search 100 bp 3'