Canonical Allele Identifier: CA233059580
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 469023
ClinVar RCV Id: RCV000542106 RCV001020692 RCV003228947
dbSNP Id: rs775772074
gnomAD v2: 12-12870808-G-T
gnomAD v3: 12-12717874-G-T
gnomAD v4: 12-12717874-G-T
MyVariant Identifiers: chr12:g.12870808G>T (hg19) chr12:g.12717874G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717874G>T , CM000674.2:g.12717874G>T GRCh38
NC_000012.11:g.12870808G>T , CM000674.1:g.12870808G>T GRCh37
NC_000012.10:g.12762075G>T NCBI36
NG_016341.1:g.5507G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.35G>T ENSP00000507272.1:p.Ser12Ile
ENST00000682620.1:n.1631-951G>T
ENST00000684771.1:n.585-951G>T
ENST00000228872.9:c.35G>T MANE Select ENSP00000228872.4:p.Ser12Ile
ENST00000228872.8:c.35G>T ENSP00000228872.4:p.Ser12Ile
ENST00000396340.1:c.35G>T ENSP00000379629.1:p.Ser12Ile
ENST00000442489.1:c.14G>T ENSP00000407597.1:p.Ser5Ile
ENST00000477087.1:n.155-951G>T
NM_004064.4:c.35G>T NP_004055.1:p.Ser12Ile
NM_004064.5:c.35G>T MANE Select NP_004055.1:p.Ser12Ile
Search 100 bp 5'
Search 100 bp 3'