Canonical Allele Identifier: CA6457377

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1133401
• ClinVar RCV Id: RCV001467947 ; RCV003355491
• dbSNP Id: rs201349921
• ExAC: 12:12870872 C / T
• gnomAD v2: 12-12870872-C-T
• gnomAD v3: 12-12717938-C-T
• gnomAD v4: 12-12717938-C-T
• MyVariant Identifiers: chr12:g.12870872C>T (hg19) ; chr12:g.12717938C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12717938C>T , CM000674.2:g.12717938C>T	GRCh38
NC_000012.11:g.12870872C>T , CM000674.1:g.12870872C>T	GRCh37
NC_000012.10:g.12762139C>T	NCBI36
NG_016341.1:g.5571C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.99C>T	ENSP00000507272.1:p.Phe33=
ENST00000682620.1:n.1631-887C>T
ENST00000684771.1:n.585-887C>T
ENST00000228872.9:c.99C>T MANE Select	ENSP00000228872.4:p.Phe33=
ENST00000228872.8:c.99C>T	ENSP00000228872.4:p.Phe33=
ENST00000396340.1:c.99C>T	ENSP00000379629.1:p.Phe33=
ENST00000442489.1:c.78C>T	ENSP00000407597.1:p.Phe26=
ENST00000477087.1:n.155-887C>T
NM_004064.4:c.99C>T	NP_004055.1:p.Phe33=
NM_004064.5:c.99C>T MANE Select	NP_004055.1:p.Phe33=