Canonical Allele Identifier: CA383970621
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 2781934
ClinVar RCV Id: RCV003619939
dbSNP Id: rs2136356440
MyVariant Identifiers: chr12:g.12871175G>C (hg19) chr12:g.12718241G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718241G>C , CM000674.2:g.12718241G>C GRCh38
NC_000012.11:g.12871175G>C , CM000674.1:g.12871175G>C GRCh37
NC_000012.10:g.12762442G>C NCBI36
NG_016341.1:g.5874G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.402G>C ENSP00000507272.1:p.Lys134Asn
ENST00000682620.1:n.1631-584G>C
ENST00000684771.1:n.585-584G>C
ENST00000228872.9:c.402G>C MANE Select ENSP00000228872.4:p.Lys134Asn
ENST00000228872.8:c.402G>C ENSP00000228872.4:p.Lys134Asn
ENST00000396340.1:c.402G>C ENSP00000379629.1:p.Lys134Asn
ENST00000442489.1:c.193+188G>C ENSP00000407597.1:n.193+188G>C
ENST00000477087.1:n.155-584G>C
NM_004064.4:c.402G>C NP_004055.1:p.Lys134Asn
NM_004064.5:c.402G>C MANE Select NP_004055.1:p.Lys134Asn
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