Canonical Allele Identifier: CA6457409
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 656075
ClinVar RCV Id: RCV000812396 RCV001013852
dbSNP Id: rs747864095
ExAC: 12:12870968 G / T
gnomAD v2: 12-12870968-G-T
gnomAD v3: 12-12718034-G-T
gnomAD v4: 12-12718034-G-T
MyVariant Identifiers: chr12:g.12870968G>T (hg19) chr12:g.12718034G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718034G>T , CM000674.2:g.12718034G>T GRCh38
NC_000012.11:g.12870968G>T , CM000674.1:g.12870968G>T GRCh37
NC_000012.10:g.12762235G>T NCBI36
NG_016341.1:g.5667G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.195G>T ENSP00000507272.1:p.Gln65His
ENST00000682620.1:n.1631-791G>T
ENST00000684771.1:n.585-791G>T
ENST00000228872.9:c.195G>T MANE Select ENSP00000228872.4:p.Gln65His
ENST00000228872.8:c.195G>T ENSP00000228872.4:p.Gln65His
ENST00000396340.1:c.195G>T ENSP00000379629.1:p.Gln65His
ENST00000442489.1:c.174G>T ENSP00000407597.1:p.Gln58His
ENST00000477087.1:n.155-791G>T
NM_004064.4:c.195G>T NP_004055.1:p.Gln65His
NM_004064.5:c.195G>T MANE Select NP_004055.1:p.Gln65His
Search 100 bp 5'
Search 100 bp 3'