Canonical Allele Identifier: CA2499221489

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1113099
• ClinVar RCV Id: RCV001440348
• dbSNP Id: rs1431449120

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718323C>G , CM000674.2:g.12718323C>G	GRCh38
NC_000012.11:g.12871257C>G , CM000674.1:g.12871257C>G	GRCh37
NC_000012.10:g.12762524C>G	NCBI36
NG_016341.1:g.5956C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+9C>G	ENSP00000507272.1:n.475+9C>G
ENST00000682620.1:n.1631-502C>G
ENST00000684771.1:n.585-502C>G
ENST00000228872.9:c.475+9C>G MANE Select	ENSP00000228872.4:n.475+9C>G
ENST00000228872.8:c.475+9C>G	ENSP00000228872.4:n.475+9C>G
ENST00000396340.1:c.475+9C>G	ENSP00000379629.1:n.475+9C>G
ENST00000442489.1:c.193+270C>G	ENSP00000407597.1:n.193+270C>G
ENST00000477087.1:n.155-502C>G
NM_004064.4:c.475+9C>G	NP_004055.1:n.475+9C>G
NM_004064.5:c.475+9C>G MANE Select	NP_004055.1:n.475+9C>G