Canonical Allele Identifier: CA6457420

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 307661
• ClinVar RCV Id: RCV000861977 ; RCV002446562 ; RCV002465615
• dbSNP Id: rs751794433
• ExAC: 12:12871007 G / A
• gnomAD v2: 12-12871007-G-A
• gnomAD v3: 12-12718073-G-A
• gnomAD v4: 12-12718073-G-A
• MyVariant Identifiers: chr12:g.12871007G>A (hg19) ; chr12:g.12718073G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718073G>A , CM000674.2:g.12718073G>A	GRCh38
NC_000012.11:g.12871007G>A , CM000674.1:g.12871007G>A	GRCh37
NC_000012.10:g.12762274G>A	NCBI36
NG_016341.1:g.5706G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.234G>A	ENSP00000507272.1:p.Glu78=
ENST00000682620.1:n.1631-752G>A
ENST00000684771.1:n.585-752G>A
ENST00000228872.9:c.234G>A MANE Select	ENSP00000228872.4:p.Glu78=
ENST00000228872.8:c.234G>A	ENSP00000228872.4:p.Glu78=
ENST00000396340.1:c.234G>A	ENSP00000379629.1:p.Glu78=
ENST00000442489.1:c.193+20G>A	ENSP00000407597.1:n.193+20G>A
ENST00000477087.1:n.155-752G>A
NM_004064.4:c.234G>A	NP_004055.1:p.Glu78=
NM_004064.5:c.234G>A MANE Select	NP_004055.1:p.Glu78=