Canonical Allele Identifier: CA383969401
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 820387
ClinVar RCV Id: RCV001013789 RCV001243763
dbSNP Id: rs1592280892
gnomAD v4: 12-12718033-A-G
MyVariant Identifiers: chr12:g.12870967A>G (hg19) chr12:g.12718033A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718033A>G , CM000674.2:g.12718033A>G GRCh38
NC_000012.11:g.12870967A>G , CM000674.1:g.12870967A>G GRCh37
NC_000012.10:g.12762234A>G NCBI36
NG_016341.1:g.5666A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.194A>G ENSP00000507272.1:p.Gln65Arg
ENST00000682620.1:n.1631-792A>G
ENST00000684771.1:n.585-792A>G
ENST00000228872.9:c.194A>G MANE Select ENSP00000228872.4:p.Gln65Arg
ENST00000228872.8:c.194A>G ENSP00000228872.4:p.Gln65Arg
ENST00000396340.1:c.194A>G ENSP00000379629.1:p.Gln65Arg
ENST00000442489.1:c.173A>G ENSP00000407597.1:p.Gln58Arg
ENST00000477087.1:n.155-792A>G
NM_004064.4:c.194A>G NP_004055.1:p.Gln65Arg
NM_004064.5:c.194A>G MANE Select NP_004055.1:p.Gln65Arg
Search 100 bp 5'
Search 100 bp 3'