Canonical Allele Identifier: CA13580270
Gene: CDKN1B HGNC NCBI
GPR19 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.12717002C>A
GRCh37 chr12:g.12869936C>A
gnomAD v2:
12:12869936 C / A
gnomAD v3:
12:12717002 C / A
gnomAD v4:
chr12-12717002-C-A
Joint Max Group AF 0.44168171 (NFE)
Genomes Max Group AF 0.44841592 (NFE)
Exomes Max Group AF 0.44076677 (NFE)
ClinVar RCV:
RCV000860763
RCV001519993
ClinVar Variation:
695291
dbSNP:
36228499
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.12717002C>A , CM000674.2:g.12717002C>A GRCh38
NC_000012.11:g.12869936C>A , CM000674.1:g.12869936C>A GRCh37
NC_000012.10:g.12761203C>A NCBI36
NG_016341.1:g.4635C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000682620.1:n.1631-1823C>A (CDKN1B)
ENST00000684771.1:n.585-1823C>A (CDKN1B)
ENST00000477087.1:n.154+1119C>A (CDKN1B)
XM_011520623.1:c.-1496G>T (GPR19) XP_011518925.1:n.-1496G>T
XM_011520623.3:c.-1496G>T (GPR19) XP_011518925.1:n.-1496G>T
XM_017019216.2:c.-1524G>T (GPR19) XP_016874705.1:n.-1524G>T
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