Canonical Allele Identifier: CA233059417
Gene: CDKN1B HGNC NCBI

Linked Data

dbSNP Id: rs972365866
gnomAD v2: 12-12870743-A-C
gnomAD v3: 12-12717809-A-C
gnomAD v4: 12-12717809-A-C
MyVariant Identifiers: chr12:g.12870743A>C (hg19) chr12:g.12717809A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717809A>C , CM000674.2:g.12717809A>C GRCh38
NC_000012.11:g.12870743A>C , CM000674.1:g.12870743A>C GRCh37
NC_000012.10:g.12762010A>C NCBI36
NG_016341.1:g.5442A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.-31A>C ENSP00000507272.1:n.-31A>C
ENST00000682620.1:n.1631-1016A>C
ENST00000684771.1:n.585-1016A>C
ENST00000228872.9:c.-31A>C MANE Select ENSP00000228872.4:n.-31A>C
ENST00000228872.8:c.-31A>C ENSP00000228872.4:n.-31A>C
ENST00000477087.1:n.155-1016A>C
NM_004064.4:c.-31A>C NP_004055.1:n.-31A>C
NM_004064.5:c.-31A>C MANE Select NP_004055.1:n.-31A>C
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