Canonical Allele Identifier: CA6457394
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 536837
ClinVar RCV Id: RCV000645514
dbSNP Id: rs369554045
ExAC: 12:12870924 G / T
gnomAD v2: 12-12870924-G-T
gnomAD v3: 12-12717990-G-T
gnomAD v4: 12-12717990-G-T
MyVariant Identifiers: chr12:g.12870924G>T (hg19) chr12:g.12717990G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717990G>T , CM000674.2:g.12717990G>T GRCh38
NC_000012.11:g.12870924G>T , CM000674.1:g.12870924G>T GRCh37
NC_000012.10:g.12762191G>T NCBI36
NG_016341.1:g.5623G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.151G>T ENSP00000507272.1:p.Asp51Tyr
ENST00000682620.1:n.1631-835G>T
ENST00000684771.1:n.585-835G>T
ENST00000228872.9:c.151G>T MANE Select ENSP00000228872.4:p.Asp51Tyr
ENST00000228872.8:c.151G>T ENSP00000228872.4:p.Asp51Tyr
ENST00000396340.1:c.151G>T ENSP00000379629.1:p.Asp51Tyr
ENST00000442489.1:c.130G>T ENSP00000407597.1:p.Asp44Tyr
ENST00000477087.1:n.155-835G>T
NM_004064.4:c.151G>T NP_004055.1:p.Asp51Tyr
NM_004064.5:c.151G>T MANE Select NP_004055.1:p.Asp51Tyr
Search 100 bp 5'
Search 100 bp 3'