Canonical Allele Identifier: CA383968569
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 941865
ClinVar RCV Id: RCV001211729
dbSNP Id: rs201349921

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717938C>G , CM000674.2:g.12717938C>G GRCh38
NC_000012.11:g.12870872C>G , CM000674.1:g.12870872C>G GRCh37
NC_000012.10:g.12762139C>G NCBI36
NG_016341.1:g.5571C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.99C>G ENSP00000507272.1:p.Phe33Leu
ENST00000682620.1:n.1631-887C>G
ENST00000684771.1:n.585-887C>G
ENST00000228872.9:c.99C>G MANE Select ENSP00000228872.4:p.Phe33Leu
ENST00000228872.8:c.99C>G ENSP00000228872.4:p.Phe33Leu
ENST00000396340.1:c.99C>G ENSP00000379629.1:p.Phe33Leu
ENST00000442489.1:c.78C>G ENSP00000407597.1:p.Phe26Leu
ENST00000477087.1:n.155-887C>G
NM_004064.4:c.99C>G NP_004055.1:p.Phe33Leu
NM_004064.5:c.99C>G MANE Select NP_004055.1:p.Phe33Leu