Canonical Allele Identifier: CA6457353
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1704812
ClinVar RCV Id: RCV002283139
dbSNP Id: rs202167434
ExAC: 12:12870765 G / A
gnomAD v2: 12-12870765-G-A
gnomAD v3: 12-12717831-G-A
gnomAD v4: 12-12717831-G-A
MyVariant Identifiers: chr12:g.12870765G>A (hg19) chr12:g.12717831G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717831G>A , CM000674.2:g.12717831G>A GRCh38
NC_000012.11:g.12870765G>A , CM000674.1:g.12870765G>A GRCh37
NC_000012.10:g.12762032G>A NCBI36
NG_016341.1:g.5464G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.-9G>A ENSP00000507272.1:n.-9G>A
ENST00000682620.1:n.1631-994G>A
ENST00000684771.1:n.585-994G>A
ENST00000228872.9:c.-9G>A MANE Select ENSP00000228872.4:n.-9G>A
ENST00000228872.8:c.-9G>A ENSP00000228872.4:n.-9G>A
ENST00000396340.1:c.-9G>A ENSP00000379629.1:n.-9G>A
ENST00000477087.1:n.155-994G>A
NM_004064.4:c.-9G>A NP_004055.1:n.-9G>A
NM_004064.5:c.-9G>A MANE Select NP_004055.1:n.-9G>A
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