Canonical Allele Identifier: CA6457438

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 412884
• ClinVar RCV Id: RCV000468375 ; RCV000568054
• dbSNP Id: rs761928140
• ExAC: 12:12871046 C / T
• gnomAD v2: 12-12871046-C-T
• gnomAD v3: 12-12718112-C-T
• gnomAD v4: 12-12718112-C-T
• MyVariant Identifiers: chr12:g.12871046C>T (hg19) ; chr12:g.12718112C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718112C>T , CM000674.2:g.12718112C>T	GRCh38
NC_000012.11:g.12871046C>T , CM000674.1:g.12871046C>T	GRCh37
NC_000012.10:g.12762313C>T	NCBI36
NG_016341.1:g.5745C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.273C>T	ENSP00000507272.1:p.Pro91=
ENST00000682620.1:n.1631-713C>T
ENST00000684771.1:n.585-713C>T
ENST00000228872.9:c.273C>T MANE Select	ENSP00000228872.4:p.Pro91=
ENST00000228872.8:c.273C>T	ENSP00000228872.4:p.Pro91=
ENST00000396340.1:c.273C>T	ENSP00000379629.1:p.Pro91=
ENST00000442489.1:c.193+59C>T	ENSP00000407597.1:n.193+59C>T
ENST00000477087.1:n.155-713C>T
NM_004064.4:c.273C>T	NP_004055.1:p.Pro91=
NM_004064.5:c.273C>T MANE Select	NP_004055.1:p.Pro91=