Canonical Allele Identifier: CA478845590

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1947601
• ClinVar RCV Id: RCV002663447
• gnomAD v4: 12-12718013-C-T
• MyVariant Identifiers: chr12:g.12870947C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718013C>T , CM000674.2:g.12718013C>T	GRCh38
NC_000012.11:g.12870947C>T , CM000674.1:g.12870947C>T	GRCh37
NC_000012.10:g.12762214C>T	NCBI36
NG_016341.1:g.5646C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.174C>T	ENSP00000507272.1:p.Arg58=
ENST00000682620.1:n.1631-812C>T
ENST00000684771.1:n.585-812C>T
ENST00000228872.9:c.174C>T MANE Select	ENSP00000228872.4:p.Arg58=
ENST00000228872.8:c.174C>T	ENSP00000228872.4:p.Arg58=
ENST00000396340.1:c.174C>T	ENSP00000379629.1:p.Arg58=
ENST00000442489.1:c.153C>T	ENSP00000407597.1:p.Arg51=
ENST00000477087.1:n.155-812C>T
NM_004064.4:c.174C>T	NP_004055.1:p.Arg58=
NM_004064.5:c.174C>T MANE Select	NP_004055.1:p.Arg58=