Canonical Allele Identifier: CA10641335
Gene: CDKN1B HGNC NCBI
GPR19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.12717761T>C
GRCh37 chr12:g.12870695T>C
gnomAD v2:
12:12870695 T / C
gnomAD v3:
12:12717761 T / C
gnomAD v4:
chr12-12717761-T-C
Joint Max Group AF 0.7875655 (AMR)
Genomes Max Group AF 0.76065723 (SAS)
Exomes Max Group AF 0.79687423 (AMR)
ClinVar RCV:
RCV000999957
RCV001706463
ClinVar Variation:
307658
dbSNP:
34330
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717761T>C , CM000674.2:g.12717761T>C GRCh38
NC_000012.11:g.12870695T>C , CM000674.1:g.12870695T>C GRCh37
NC_000012.10:g.12761962T>C NCBI36
NG_016341.1:g.5394T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000614874.2:c.-79T>C (CDKN1B) ENSP00000507272.1:n.-79T>C
ENST00000682620.1:n.1631-1064T>C (CDKN1B)
ENST00000684771.1:n.585-1064T>C (CDKN1B)
ENST00000228872.9:c.-79T>C (CDKN1B) MANE Select ENSP00000228872.4:n.-79T>C
ENST00000228872.8:c.-79T>C (CDKN1B) ENSP00000228872.4:n.-79T>C
ENST00000477087.1:n.155-1064T>C (CDKN1B)
NM_004064.4:c.-79T>C (CDKN1B) NP_004055.1:n.-79T>C
XM_011520623.3:c.-2255A>G (GPR19) XP_011518925.1:n.-2255A>G
XM_017019216.2:c.-2283A>G (GPR19) XP_016874705.1:n.-2283A>G
NM_004064.5:c.-79T>C (CDKN1B) MANE Select NP_004055.1:n.-79T>C
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