Canonical Allele Identifier: CA383970732

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1421393
• ClinVar RCV Id: RCV001916896
• dbSNP Id: rs1946499047
• gnomAD v4: 12-12718266-G-T
• MyVariant Identifiers: chr12:g.12871200G>T (hg19) ; chr12:g.12718266G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718266G>T , CM000674.2:g.12718266G>T	GRCh38
NC_000012.11:g.12871200G>T , CM000674.1:g.12871200G>T	GRCh37
NC_000012.10:g.12762467G>T	NCBI36
NG_016341.1:g.5899G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.427G>T	ENSP00000507272.1:p.Gly143Trp
ENST00000682620.1:n.1631-559G>T
ENST00000684771.1:n.585-559G>T
ENST00000228872.9:c.427G>T MANE Select	ENSP00000228872.4:p.Gly143Trp
ENST00000228872.8:c.427G>T	ENSP00000228872.4:p.Gly143Trp
ENST00000396340.1:c.427G>T	ENSP00000379629.1:p.Gly143Trp
ENST00000442489.1:c.193+213G>T	ENSP00000407597.1:n.193+213G>T
ENST00000477087.1:n.155-559G>T
NM_004064.4:c.427G>T	NP_004055.1:p.Gly143Trp
NM_004064.5:c.427G>T MANE Select	NP_004055.1:p.Gly143Trp