Canonical Allele Identifier: CA6457369
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 469026
ClinVar RCV Id: RCV000540605 RCV001022424
dbSNP Id: rs2066828
ExAC: 12:12870816 C / T
gnomAD v2: 12-12870816-C-T
gnomAD v3: 12-12717882-C-T
gnomAD v4: 12-12717882-C-T
MyVariant Identifiers: chr12:g.12870816C>T (hg19) chr12:g.12717882C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717882C>T , CM000674.2:g.12717882C>T GRCh38
NC_000012.11:g.12870816C>T , CM000674.1:g.12870816C>T GRCh37
NC_000012.10:g.12762083C>T NCBI36
NG_016341.1:g.5515C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.43C>T ENSP00000507272.1:p.Arg15Trp
ENST00000682620.1:n.1631-943C>T
ENST00000684771.1:n.585-943C>T
ENST00000228872.9:c.43C>T MANE Select ENSP00000228872.4:p.Arg15Trp
ENST00000228872.8:c.43C>T ENSP00000228872.4:p.Arg15Trp
ENST00000396340.1:c.43C>T ENSP00000379629.1:p.Arg15Trp
ENST00000442489.1:c.22C>T ENSP00000407597.1:p.Arg8Trp
ENST00000477087.1:n.155-943C>T
NM_004064.4:c.43C>T NP_004055.1:p.Arg15Trp
NM_004064.5:c.43C>T MANE Select NP_004055.1:p.Arg15Trp
Search 100 bp 5'
Search 100 bp 3'