Canonical Allele Identifier: CA478845328

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1146041
• ClinVar RCV Id: RCV001485152 ; RCV002368491
• dbSNP Id: rs1946486404
• gnomAD v4: 12-12717876-C-T
• MyVariant Identifiers: chr12:g.12870810C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717876C>T , CM000674.2:g.12717876C>T	GRCh38
NC_000012.11:g.12870810C>T , CM000674.1:g.12870810C>T	GRCh37
NC_000012.10:g.12762077C>T	NCBI36
NG_016341.1:g.5509C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.37C>T	ENSP00000507272.1:p.Leu13=
ENST00000682620.1:n.1631-949C>T
ENST00000684771.1:n.585-949C>T
ENST00000228872.9:c.37C>T MANE Select	ENSP00000228872.4:p.Leu13=
ENST00000228872.8:c.37C>T	ENSP00000228872.4:p.Leu13=
ENST00000396340.1:c.37C>T	ENSP00000379629.1:p.Leu13=
ENST00000442489.1:c.16C>T	ENSP00000407597.1:p.Leu6=
ENST00000477087.1:n.155-949C>T
NM_004064.4:c.37C>T	NP_004055.1:p.Leu13=
NM_004064.5:c.37C>T MANE Select	NP_004055.1:p.Leu13=