Canonical Allele Identifier: CA6457419
Gene: CDKN1B HGNC NCBI

Linked Data

ClinVar Variation Id: 857788
ClinVar RCV Id: RCV001063530
dbSNP Id: rs764436301

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12718069A>G , CM000674.2:g.12718069A>G GRCh38
NC_000012.11:g.12871003A>G , CM000674.1:g.12871003A>G GRCh37
NC_000012.10:g.12762270A>G NCBI36
NG_016341.1:g.5702A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000614874.2:c.230A>G ENSP00000507272.1:p.Gln77Arg
ENST00000682620.1:n.1631-756A>G
ENST00000684771.1:n.585-756A>G
ENST00000228872.9:c.230A>G MANE Select ENSP00000228872.4:p.Gln77Arg
ENST00000228872.8:c.230A>G ENSP00000228872.4:p.Gln77Arg
ENST00000396340.1:c.230A>G ENSP00000379629.1:p.Gln77Arg
ENST00000442489.1:c.193+16A>G ENSP00000407597.1:n.193+16A>G
ENST00000477087.1:n.155-756A>G
NM_004064.4:c.230A>G NP_004055.1:p.Gln77Arg
NM_004064.5:c.230A>G MANE Select NP_004055.1:p.Gln77Arg