Canonical Allele Identifier: CA233059551

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 469005
• ClinVar RCV Id: RCV000524886 ; RCV001014434
• dbSNP Id: rs368157535
• gnomAD v3: 12-12717859-C-G
• gnomAD v4: 12-12717859-C-G
• COSMIC: COSM1299112
• MyVariant Identifiers: chr12:g.12870793C>G (hg19) ; chr12:g.12717859C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717859C>G , CM000674.2:g.12717859C>G	GRCh38
NC_000012.11:g.12870793C>G , CM000674.1:g.12870793C>G	GRCh37
NC_000012.10:g.12762060C>G	NCBI36
NG_016341.1:g.5492C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.20C>G	ENSP00000507272.1:p.Ser7Cys
ENST00000682620.1:n.1631-966C>G
ENST00000684771.1:n.585-966C>G
ENST00000228872.9:c.20C>G MANE Select	ENSP00000228872.4:p.Ser7Cys
ENST00000228872.8:c.20C>G	ENSP00000228872.4:p.Ser7Cys
ENST00000396340.1:c.20C>G	ENSP00000379629.1:p.Ser7Cys
ENST00000477087.1:n.155-966C>G
NM_004064.4:c.20C>G	NP_004055.1:p.Ser7Cys
NM_004064.5:c.20C>G MANE Select	NP_004055.1:p.Ser7Cys