Canonical Allele Identifier: CA6457512

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1123695
• ClinVar RCV Id: RCV001454836
• dbSNP Id: rs746035786
• ExAC: 12:12871255 A / G
• gnomAD v2: 12-12871255-A-G
• gnomAD v4: 12-12718321-A-G
• MyVariant Identifiers: chr12:g.12871255A>G (hg19) ; chr12:g.12718321A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718321A>G , CM000674.2:g.12718321A>G	GRCh38
NC_000012.11:g.12871255A>G , CM000674.1:g.12871255A>G	GRCh37
NC_000012.10:g.12762522A>G	NCBI36
NG_016341.1:g.5954A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+7A>G	ENSP00000507272.1:n.475+7A>G
ENST00000682620.1:n.1631-504A>G
ENST00000684771.1:n.585-504A>G
ENST00000228872.9:c.475+7A>G MANE Select	ENSP00000228872.4:n.475+7A>G
ENST00000228872.8:c.475+7A>G	ENSP00000228872.4:n.475+7A>G
ENST00000396340.1:c.475+7A>G	ENSP00000379629.1:n.475+7A>G
ENST00000442489.1:c.193+268A>G	ENSP00000407597.1:n.193+268A>G
ENST00000477087.1:n.155-504A>G
NM_004064.4:c.475+7A>G	NP_004055.1:n.475+7A>G
NM_004064.5:c.475+7A>G MANE Select	NP_004055.1:n.475+7A>G