Canonical Allele Identifier: CA478845860

Gene: CDKN1B

Linked Data

• ClinVar Variation Id: 1662485
• ClinVar RCV Id: RCV002185768 ; RCV003308036
• dbSNP Id: rs2136356472
• gnomAD v4: 12-12718253-G-C
• MyVariant Identifiers: chr12:g.12871187G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.12718253G>C , CM000674.2:g.12718253G>C	GRCh38
NC_000012.11:g.12871187G>C , CM000674.1:g.12871187G>C	GRCh37
NC_000012.10:g.12762454G>C	NCBI36
NG_016341.1:g.5886G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000614874.2:c.414G>C	ENSP00000507272.1:p.Ser138=
ENST00000682620.1:n.1631-572G>C
ENST00000684771.1:n.585-572G>C
ENST00000228872.9:c.414G>C MANE Select	ENSP00000228872.4:p.Ser138=
ENST00000228872.8:c.414G>C	ENSP00000228872.4:p.Ser138=
ENST00000396340.1:c.414G>C	ENSP00000379629.1:p.Ser138=
ENST00000442489.1:c.193+200G>C	ENSP00000407597.1:n.193+200G>C
ENST00000477087.1:n.155-572G>C
NM_004064.4:c.414G>C	NP_004055.1:p.Ser138=
NM_004064.5:c.414G>C MANE Select	NP_004055.1:p.Ser138=