Canonical Allele Identifier: CA603359001

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1454269255
• gnomAD v2: 12-12873366-C-G
• gnomAD v3: 12-12720432-C-G
• gnomAD v4: 12-12720432-C-G
• MyVariant Identifiers: chr12:g.12873366C>G (hg19) ; chr12:g.12720432C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12720432C>G , CM000674.2:g.12720432C>G	GRCh38
NC_000012.11:g.12873366C>G , CM000674.1:g.12873366C>G	GRCh37
NC_000012.10:g.12764633C>G	NCBI36
NG_016341.1:g.8065C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.*1486C>G	ENSP00000507272.1:n.*1486C>G
ENST00000682620.1:n.1761-604C>G
ENST00000684771.1:n.715-604C>G
ENST00000228872.9:c.*9-604C>G MANE Select	ENSP00000228872.4:n.*9-604C>G
ENST00000228872.8:c.*9-604C>G	ENSP00000228872.4:n.*9-604C>G
ENST00000396340.1:c.476-633C>G	ENSP00000379629.1:n.476-633C>G
ENST00000442489.1:c.324-604C>G	ENSP00000407597.1:n.324-604C>G
ENST00000477087.1:n.285-604C>G
NM_004064.4:c.*9-604C>G	NP_004055.1:n.*9-604C>G
NM_004064.5:c.*9-604C>G MANE Select	NP_004055.1:n.*9-604C>G