Canonical Allele Identifier: CA233061199

Gene: CDKN1B

Linked Data

• dbSNP Id: rs186725669
• gnomAD v2: 12-12871598-C-T
• gnomAD v3: 12-12718664-C-T
• gnomAD v4: 12-12718664-C-T
• MyVariant Identifiers: chr12:g.12871598C>T (hg19) ; chr12:g.12718664C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718664C>T , CM000674.2:g.12718664C>T	GRCh38
NC_000012.11:g.12871598C>T , CM000674.1:g.12871598C>T	GRCh37
NC_000012.10:g.12762865C>T	NCBI36
NG_016341.1:g.6297C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.476-161C>T	ENSP00000507272.1:n.476-161C>T
ENST00000682620.1:n.1631-161C>T
ENST00000684771.1:n.585-161C>T
ENST00000228872.9:c.476-161C>T MANE Select	ENSP00000228872.4:n.476-161C>T
ENST00000228872.8:c.476-161C>T	ENSP00000228872.4:n.476-161C>T
ENST00000396340.1:c.475+350C>T	ENSP00000379629.1:n.475+350C>T
ENST00000442489.1:c.194-161C>T	ENSP00000407597.1:n.194-161C>T
ENST00000477087.1:n.155-161C>T
NM_004064.4:c.476-161C>T	NP_004055.1:n.476-161C>T
NM_004064.5:c.476-161C>T MANE Select	NP_004055.1:n.476-161C>T