Canonical Allele Identifier: CA3652997
Gene: CDKAL1 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.20546466G>A
GRCh37 chr6:g.20546697G>A
Revel Score:
ENST00000378624 0.219
ENST00000274695 (MANE Select) 0.153
ENST00000378610 0.153
gnomAD v2:
6:20546697 G / A
gnomAD v3:
6:20546466 G / A
gnomAD v4:
chr6-20546466-G-A
Joint Max Group AF 0.00895031 (NFE)
Genomes Max Group AF 0.0086072 (NFE)
Exomes Max Group AF 0.00893867 (NFE)
ClinVar RCV:
RCV000953224
ClinVar Variation:
773467
dbSNP:
111739077
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20546466G>A , CM000668.2:g.20546466G>A GRCh38
NC_000006.11:g.20546697G>A , CM000668.1:g.20546697G>A GRCh37
NC_000006.10:g.20654676G>A NCBI36
NG_021195.1:g.17010G>A
NG_021195.2:g.17010G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.116G>A MANE Select ENSP00000274695.4:p.Arg39Gln
ENST00000378610.1:c.116G>A ENSP00000367873.1:p.Arg39Gln
ENST00000613575.4:c.116G>A ENSP00000481755.1:p.Arg39Gln
NM_017774.3:c.116G>A MANE Select NP_060244.2:p.Arg39Gln
XM_006715128.2:c.116G>A XP_006715191.1:p.Arg39Gln
XM_011514718.1:c.116G>A XP_011513020.1:p.Arg39Gln
XM_011514719.1:c.116G>A XP_011513021.1:p.Arg39Gln
XR_926265.1:n.283G>A
XR_926266.1:n.396G>A
XR_926267.1:n.283G>A
XM_011514719.2:c.116G>A XP_011513021.1:p.Arg39Gln
XM_017010986.1:c.116G>A XP_016866475.1:p.Arg39Gln
XM_017010987.1:c.-639G>A XP_016866476.1:n.-639G>A
XM_024446481.1:c.116G>A XP_024302249.1:p.Arg39Gln
XR_001743495.2:n.288G>A
XR_001743496.2:n.683G>A
XR_001743500.1:n.283G>A
XR_001743501.1:n.283G>A
XR_926265.2:n.283G>A
XR_926266.2:n.396G>A
XR_926267.2:n.283G>A
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