Canonical Allele Identifier: CA383970693

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 2565428
• ClinVar RCV Id: RCV003301873
• dbSNP Id: rs1267240858
• gnomAD v2: 12-12871191-A-G
• gnomAD v4: 12-12718257-A-G
• MyVariant Identifiers: chr12:g.12871191A>G (hg19) ; chr12:g.12718257A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718257A>G , CM000674.2:g.12718257A>G	GRCh38
NC_000012.11:g.12871191A>G , CM000674.1:g.12871191A>G	GRCh37
NC_000012.10:g.12762458A>G	NCBI36
NG_016341.1:g.5890A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.418A>G	ENSP00000507272.1:p.Ser140Gly
ENST00000682620.1:n.1631-568A>G
ENST00000684771.1:n.585-568A>G
ENST00000228872.9:c.418A>G MANE Select	ENSP00000228872.4:p.Ser140Gly
ENST00000228872.8:c.418A>G	ENSP00000228872.4:p.Ser140Gly
ENST00000396340.1:c.418A>G	ENSP00000379629.1:p.Ser140Gly
ENST00000442489.1:c.193+204A>G	ENSP00000407597.1:n.193+204A>G
ENST00000477087.1:n.155-568A>G
NM_004064.4:c.418A>G	NP_004055.1:p.Ser140Gly
NM_004064.5:c.418A>G MANE Select	NP_004055.1:p.Ser140Gly