Canonical Allele Identifier: CA684981432

Gene: CDKN1B

Linked Data

• dbSNP Id: rs1349582962
• gnomAD v3: 12-12718333-C-T
• gnomAD v4: 12-12718333-C-T
• MyVariant Identifiers: chr12:g.12871267C>T (hg19) ; chr12:g.12718333C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718333C>T , CM000674.2:g.12718333C>T	GRCh38
NC_000012.11:g.12871267C>T , CM000674.1:g.12871267C>T	GRCh37
NC_000012.10:g.12762534C>T	NCBI36
NG_016341.1:g.5966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+19C>T	ENSP00000507272.1:n.475+19C>T
ENST00000682620.1:n.1631-492C>T
ENST00000684771.1:n.585-492C>T
ENST00000228872.9:c.475+19C>T MANE Select	ENSP00000228872.4:n.475+19C>T
ENST00000228872.8:c.475+19C>T	ENSP00000228872.4:n.475+19C>T
ENST00000396340.1:c.475+19C>T	ENSP00000379629.1:n.475+19C>T
ENST00000442489.1:c.193+280C>T	ENSP00000407597.1:n.193+280C>T
ENST00000477087.1:n.155-492C>T
NM_004064.4:c.475+19C>T	NP_004055.1:n.475+19C>T
NM_004064.5:c.475+19C>T MANE Select	NP_004055.1:n.475+19C>T