Canonical Allele Identifier: CA233062980
Gene: CDKN1B HGNC NCBI

Linked Data

dbSNP Id: rs983261511
gnomAD v2: 12-12873392-C-A
gnomAD v3: 12-12720458-C-A
gnomAD v4: 12-12720458-C-A
MyVariant Identifiers: chr12:g.12873392C>A (hg19) chr12:g.12720458C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12720458C>A , CM000674.2:g.12720458C>A GRCh38
NC_000012.11:g.12873392C>A , CM000674.1:g.12873392C>A GRCh37
NC_000012.10:g.12764659C>A NCBI36
NG_016341.1:g.8091C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.*1512C>A ENSP00000507272.1:n.*1512C>A
ENST00000682620.1:n.1761-578C>A
ENST00000684771.1:n.715-578C>A
ENST00000228872.9:c.*9-578C>A MANE Select ENSP00000228872.4:n.*9-578C>A
ENST00000228872.8:c.*9-578C>A ENSP00000228872.4:n.*9-578C>A
ENST00000396340.1:c.476-607C>A ENSP00000379629.1:n.476-607C>A
ENST00000442489.1:c.324-578C>A ENSP00000407597.1:n.324-578C>A
ENST00000477087.1:n.285-578C>A
NM_004064.4:c.*9-578C>A NP_004055.1:n.*9-578C>A
NM_004064.5:c.*9-578C>A MANE Select NP_004055.1:n.*9-578C>A
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