Canonical Allele Identifier: CA944841710

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1946528962
• gnomAD v3: 12-12720250-C-T
• gnomAD v4: 12-12720250-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12720250C>T , CM000674.2:g.12720250C>T	GRCh38
NC_000012.11:g.12873184C>T , CM000674.1:g.12873184C>T	GRCh37
NC_000012.10:g.12764451C>T	NCBI36
NG_016341.1:g.7883C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.*1304C>T	ENSP00000507272.1:n.*1304C>T
ENST00000682620.1:n.1761-786C>T
ENST00000684771.1:n.715-786C>T
ENST00000228872.9:c.*9-786C>T MANE Select	ENSP00000228872.4:n.*9-786C>T
ENST00000228872.8:c.*9-786C>T	ENSP00000228872.4:n.*9-786C>T
ENST00000396340.1:c.476-815C>T	ENSP00000379629.1:n.476-815C>T
ENST00000442489.1:c.324-786C>T	ENSP00000407597.1:n.324-786C>T
ENST00000477087.1:n.285-786C>T
NM_004064.4:c.*9-786C>T	NP_004055.1:n.*9-786C>T
NM_004064.5:c.*9-786C>T MANE Select	NP_004055.1:n.*9-786C>T