Canonical Allele Identifier: CA233062989

Gene: CDKN1B

Linked Data

• dbSNP Id: rs537681881
• gnomAD v3: 12-12720483-T-C
• gnomAD v4: 12-12720483-T-C
• MyVariant Identifiers: chr12:g.12873417T>C (hg19) ; chr12:g.12720483T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12720483T>C , CM000674.2:g.12720483T>C	GRCh38
NC_000012.11:g.12873417T>C , CM000674.1:g.12873417T>C	GRCh37
NC_000012.10:g.12764684T>C	NCBI36
NG_016341.1:g.8116T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.*1537T>C	ENSP00000507272.1:n.*1537T>C
ENST00000682620.1:n.1761-553T>C
ENST00000684771.1:n.715-553T>C
ENST00000228872.9:c.*9-553T>C MANE Select	ENSP00000228872.4:n.*9-553T>C
ENST00000228872.8:c.*9-553T>C	ENSP00000228872.4:n.*9-553T>C
ENST00000396340.1:c.476-582T>C	ENSP00000379629.1:n.476-582T>C
ENST00000442489.1:c.324-553T>C	ENSP00000407597.1:n.324-553T>C
ENST00000477087.1:n.285-553T>C
NM_004064.4:c.*9-553T>C	NP_004055.1:n.*9-553T>C
NM_004064.5:c.*9-553T>C MANE Select	NP_004055.1:n.*9-553T>C