Canonical Allele Identifier: CA6457484

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 485501
• ClinVar RCV Id: RCV000571623 ; RCV000645528
• dbSNP Id: rs377573215
• ExAC: 12:12871160 T / C
• gnomAD v2: 12-12871160-T-C
• gnomAD v3: 12-12718226-T-C
• gnomAD v4: 12-12718226-T-C
• MyVariant Identifiers: chr12:g.12871160T>C (hg19) ; chr12:g.12718226T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718226T>C , CM000674.2:g.12718226T>C	GRCh38
NC_000012.11:g.12871160T>C , CM000674.1:g.12871160T>C	GRCh37
NC_000012.10:g.12762427T>C	NCBI36
NG_016341.1:g.5859T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.387T>C	ENSP00000507272.1:p.His129=
ENST00000682620.1:n.1631-599T>C
ENST00000684771.1:n.585-599T>C
ENST00000228872.9:c.387T>C MANE Select	ENSP00000228872.4:p.His129=
ENST00000228872.8:c.387T>C	ENSP00000228872.4:p.His129=
ENST00000396340.1:c.387T>C	ENSP00000379629.1:p.His129=
ENST00000442489.1:c.193+173T>C	ENSP00000407597.1:n.193+173T>C
ENST00000477087.1:n.155-599T>C
NM_004064.4:c.387T>C	NP_004055.1:p.His129=
NM_004064.5:c.387T>C MANE Select	NP_004055.1:p.His129=