Canonical Allele Identifier: CA6457408

Gene: CDKN1B

Linked Data

• dbSNP Id: rs778380972
• ExAC: 12:12870964 T / C
• gnomAD v2: 12-12870964-T-C
• gnomAD v4: 12-12718030-T-C
• MyVariant Identifiers: chr12:g.12870964T>C (hg19) ; chr12:g.12718030T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718030T>C , CM000674.2:g.12718030T>C	GRCh38
NC_000012.11:g.12870964T>C , CM000674.1:g.12870964T>C	GRCh37
NC_000012.10:g.12762231T>C	NCBI36
NG_016341.1:g.5663T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.191T>C	ENSP00000507272.1:p.Phe64Ser
ENST00000682620.1:n.1631-795T>C
ENST00000684771.1:n.585-795T>C
ENST00000228872.9:c.191T>C MANE Select	ENSP00000228872.4:p.Phe64Ser
ENST00000228872.8:c.191T>C	ENSP00000228872.4:p.Phe64Ser
ENST00000396340.1:c.191T>C	ENSP00000379629.1:p.Phe64Ser
ENST00000442489.1:c.170T>C	ENSP00000407597.1:p.Phe57Ser
ENST00000477087.1:n.155-795T>C
NM_004064.4:c.191T>C	NP_004055.1:p.Phe64Ser
NM_004064.5:c.191T>C MANE Select	NP_004055.1:p.Phe64Ser