Canonical Allele Identifier: CA478845632

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 697849
• ClinVar RCV Id: RCV001014458 ; RCV001506581
• dbSNP Id: rs1592280917
• gnomAD v4: 12-12718049-A-G
• MyVariant Identifiers: chr12:g.12870983A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718049A>G , CM000674.2:g.12718049A>G	GRCh38
NC_000012.11:g.12870983A>G , CM000674.1:g.12870983A>G	GRCh37
NC_000012.10:g.12762250A>G	NCBI36
NG_016341.1:g.5682A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.210A>G	ENSP00000507272.1:p.Leu70=
ENST00000682620.1:n.1631-776A>G
ENST00000684771.1:n.585-776A>G
ENST00000228872.9:c.210A>G MANE Select	ENSP00000228872.4:p.Leu70=
ENST00000228872.8:c.210A>G	ENSP00000228872.4:p.Leu70=
ENST00000396340.1:c.210A>G	ENSP00000379629.1:p.Leu70=
ENST00000442489.1:c.189A>G	ENSP00000407597.1:p.Leu63=
ENST00000477087.1:n.155-776A>G
NM_004064.4:c.210A>G	NP_004055.1:p.Leu70=
NM_004064.5:c.210A>G MANE Select	NP_004055.1:p.Leu70=