Canonical Allele Identifier: CA6457343
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 1878995
ClinVar RCV Id: RCV002511496
dbSNP Id: rs780172282
ExAC: 12:12870738 G / C
gnomAD v2: 12-12870738-G-C
gnomAD v3: 12-12717804-G-C
gnomAD v4: 12-12717804-G-C
MyVariant Identifiers: chr12:g.12870738G>C (hg19) chr12:g.12717804G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717804G>C , CM000674.2:g.12717804G>C GRCh38
NC_000012.11:g.12870738G>C , CM000674.1:g.12870738G>C GRCh37
NC_000012.10:g.12762005G>C NCBI36
NG_016341.1:g.5437G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.-36G>C ENSP00000507272.1:n.-36G>C
ENST00000682620.1:n.1631-1021G>C
ENST00000684771.1:n.585-1021G>C
ENST00000228872.9:c.-36G>C MANE Select ENSP00000228872.4:n.-36G>C
ENST00000228872.8:c.-36G>C ENSP00000228872.4:n.-36G>C
ENST00000477087.1:n.155-1021G>C
NM_004064.4:c.-36G>C NP_004055.1:n.-36G>C
NM_004064.5:c.-36G>C MANE Select NP_004055.1:n.-36G>C
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