Canonical Allele Identifier: CA233060935

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1207669
• ClinVar RCV Id: RCV001575743
• dbSNP Id: rs3093730
• gnomAD v2: 12-12871419-T-G
• gnomAD v3: 12-12718485-T-G
• gnomAD v4: 12-12718485-T-G
• MyVariant Identifiers: chr12:g.12871419T>G (hg19) ; chr12:g.12718485T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718485T>G , CM000674.2:g.12718485T>G	GRCh38
NC_000012.11:g.12871419T>G , CM000674.1:g.12871419T>G	GRCh37
NC_000012.10:g.12762686T>G	NCBI36
NG_016341.1:g.6118T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.475+171T>G	ENSP00000507272.1:n.475+171T>G
ENST00000682620.1:n.1631-340T>G
ENST00000684771.1:n.585-340T>G
ENST00000228872.9:c.475+171T>G MANE Select	ENSP00000228872.4:n.475+171T>G
ENST00000228872.8:c.475+171T>G	ENSP00000228872.4:n.475+171T>G
ENST00000396340.1:c.475+171T>G	ENSP00000379629.1:n.475+171T>G
ENST00000442489.1:c.194-340T>G	ENSP00000407597.1:n.194-340T>G
ENST00000477087.1:n.155-340T>G
NM_004064.4:c.475+171T>G	NP_004055.1:n.475+171T>G
NM_004064.5:c.475+171T>G MANE Select	NP_004055.1:n.475+171T>G