Canonical Allele Identifier: CA6457356

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 827382
• ClinVar RCV Id: RCV001027044 ; RCV001112161
• dbSNP Id: rs751341214
• ExAC: 12:12870767 G / C
• gnomAD v2: 12-12870767-G-C
• gnomAD v3: 12-12717833-G-C
• gnomAD v4: 12-12717833-G-C
• MyVariant Identifiers: chr12:g.12870767G>C (hg19) ; chr12:g.12717833G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717833G>C , CM000674.2:g.12717833G>C	GRCh38
NC_000012.11:g.12870767G>C , CM000674.1:g.12870767G>C	GRCh37
NC_000012.10:g.12762034G>C	NCBI36
NG_016341.1:g.5466G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.-7G>C	ENSP00000507272.1:n.-7G>C
ENST00000682620.1:n.1631-992G>C
ENST00000684771.1:n.585-992G>C
ENST00000228872.9:c.-7G>C MANE Select	ENSP00000228872.4:n.-7G>C
ENST00000228872.8:c.-7G>C	ENSP00000228872.4:n.-7G>C
ENST00000396340.1:c.-7G>C	ENSP00000379629.1:n.-7G>C
ENST00000477087.1:n.155-992G>C
NM_004064.4:c.-7G>C	NP_004055.1:n.-7G>C
NM_004064.5:c.-7G>C MANE Select	NP_004055.1:n.-7G>C