Canonical Allele Identifier: CA6457405

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 707397
• ClinVar RCV Id: RCV000878372 ; RCV002399972
• dbSNP Id: rs140927518
• ExAC: 12:12870950 G / A
• gnomAD v2: 12-12870950-G-A
• gnomAD v3: 12-12718016-G-A
• gnomAD v4: 12-12718016-G-A
• MyVariant Identifiers: chr12:g.12870950G>A (hg19) ; chr12:g.12718016G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718016G>A , CM000674.2:g.12718016G>A	GRCh38
NC_000012.11:g.12870950G>A , CM000674.1:g.12870950G>A	GRCh37
NC_000012.10:g.12762217G>A	NCBI36
NG_016341.1:g.5649G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.177G>A	ENSP00000507272.1:p.Lys59=
ENST00000682620.1:n.1631-809G>A
ENST00000684771.1:n.585-809G>A
ENST00000228872.9:c.177G>A MANE Select	ENSP00000228872.4:p.Lys59=
ENST00000228872.8:c.177G>A	ENSP00000228872.4:p.Lys59=
ENST00000396340.1:c.177G>A	ENSP00000379629.1:p.Lys59=
ENST00000442489.1:c.156G>A	ENSP00000407597.1:p.Lys52=
ENST00000477087.1:n.155-809G>A
NM_004064.4:c.177G>A	NP_004055.1:p.Lys59=
NM_004064.5:c.177G>A MANE Select	NP_004055.1:p.Lys59=