Canonical Allele Identifier: CA6457514
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1605799
ClinVar RCV Id: RCV002137438
dbSNP Id: rs36101844
ExAC: 12:12871258 C / A
gnomAD v2: 12-12871258-C-A
gnomAD v4: 12-12718324-C-A
MyVariant Identifiers: chr12:g.12871258C>A (hg19) chr12:g.12871258_12871259delinsAT (hg19) chr12:g.12718324C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718324C>A , CM000674.2:g.12718324C>A GRCh38
NC_000012.11:g.12871258C>A , CM000674.1:g.12871258C>A GRCh37
NC_000012.10:g.12762525C>A NCBI36
NG_016341.1:g.5957C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.475+10C>A ENSP00000507272.1:n.475+10C>A
ENST00000682620.1:n.1631-501C>A
ENST00000684771.1:n.585-501C>A
ENST00000228872.9:c.475+10C>A MANE Select ENSP00000228872.4:n.475+10C>A
ENST00000228872.8:c.475+10C>A ENSP00000228872.4:n.475+10C>A
ENST00000396340.1:c.475+10C>A ENSP00000379629.1:n.475+10C>A
ENST00000442489.1:c.193+271C>A ENSP00000407597.1:n.193+271C>A
ENST00000477087.1:n.155-501C>A
NM_004064.4:c.475+10C>A NP_004055.1:n.475+10C>A
NM_004064.5:c.475+10C>A MANE Select NP_004055.1:n.475+10C>A
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