Canonical Allele Identifier: CA233062926

Gene: CDKN1B

Linked Data

• dbSNP Id: rs558397242
• gnomAD v3: 12-12720354-C-T
• gnomAD v4: 12-12720354-C-T
• MyVariant Identifiers: chr12:g.12873288C>T (hg19) ; chr12:g.12720354C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12720354C>T , CM000674.2:g.12720354C>T	GRCh38
NC_000012.11:g.12873288C>T , CM000674.1:g.12873288C>T	GRCh37
NC_000012.10:g.12764555C>T	NCBI36
NG_016341.1:g.7987C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.*1408C>T	ENSP00000507272.1:n.*1408C>T
ENST00000682620.1:n.1761-682C>T
ENST00000684771.1:n.715-682C>T
ENST00000228872.9:c.*9-682C>T MANE Select	ENSP00000228872.4:n.*9-682C>T
ENST00000228872.8:c.*9-682C>T	ENSP00000228872.4:n.*9-682C>T
ENST00000396340.1:c.476-711C>T	ENSP00000379629.1:n.476-711C>T
ENST00000442489.1:c.324-682C>T	ENSP00000407597.1:n.324-682C>T
ENST00000477087.1:n.285-682C>T
NM_004064.4:c.*9-682C>T	NP_004055.1:n.*9-682C>T
NM_004064.5:c.*9-682C>T MANE Select	NP_004055.1:n.*9-682C>T