Canonical Allele Identifier: CA6457448

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 705103
• ClinVar RCV Id: RCV000875388 ; RCV001016579 ; RCV003478560
• dbSNP Id: rs188579132
• ExAC: 12:12871056 C / G
• gnomAD v2: 12-12871056-C-G
• gnomAD v3: 12-12718122-C-G
• gnomAD v4: 12-12718122-C-G
• MyVariant Identifiers: chr12:g.12871056C>G (hg19) ; chr12:g.12718122C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718122C>G , CM000674.2:g.12718122C>G	GRCh38
NC_000012.11:g.12871056C>G , CM000674.1:g.12871056C>G	GRCh37
NC_000012.10:g.12762323C>G	NCBI36
NG_016341.1:g.5755C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000614874.2:c.283C>G	ENSP00000507272.1:p.Pro95Ala
ENST00000682620.1:n.1631-703C>G
ENST00000684771.1:n.585-703C>G
ENST00000228872.9:c.283C>G MANE Select	ENSP00000228872.4:p.Pro95Ala
ENST00000228872.8:c.283C>G	ENSP00000228872.4:p.Pro95Ala
ENST00000396340.1:c.283C>G	ENSP00000379629.1:p.Pro95Ala
ENST00000442489.1:c.193+69C>G	ENSP00000407597.1:n.193+69C>G
ENST00000477087.1:n.155-703C>G
NM_004064.4:c.283C>G	NP_004055.1:p.Pro95Ala
NM_004064.5:c.283C>G MANE Select	NP_004055.1:p.Pro95Ala