Canonical Allele Identifier: CA603358516

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1335359413
• gnomAD v2: 12-12871262-C-T
• gnomAD v4: 12-12718328-C-T
• MyVariant Identifiers: chr12:g.12871262C>T (hg19) ; chr12:g.12718328C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718328C>T , CM000674.2:g.12718328C>T	GRCh38
NC_000012.11:g.12871262C>T , CM000674.1:g.12871262C>T	GRCh37
NC_000012.10:g.12762529C>T	NCBI36
NG_016341.1:g.5961C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+14C>T	ENSP00000507272.1:n.475+14C>T
ENST00000682620.1:n.1631-497C>T
ENST00000684771.1:n.585-497C>T
ENST00000228872.9:c.475+14C>T MANE Select	ENSP00000228872.4:n.475+14C>T
ENST00000228872.8:c.475+14C>T	ENSP00000228872.4:n.475+14C>T
ENST00000396340.1:c.475+14C>T	ENSP00000379629.1:n.475+14C>T
ENST00000442489.1:c.193+275C>T	ENSP00000407597.1:n.193+275C>T
ENST00000477087.1:n.155-497C>T
NM_004064.4:c.475+14C>T	NP_004055.1:n.475+14C>T
NM_004064.5:c.475+14C>T MANE Select	NP_004055.1:n.475+14C>T