Canonical Allele Identifier: CA1086677549
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1772754189
gnomAD v3: 6-20728468-A-G
gnomAD v4: 6-20728468-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20728468A>G , CM000668.2:g.20728468A>G GRCh38
NC_000006.11:g.20728699A>G , CM000668.1:g.20728699A>G GRCh37
NC_000006.10:g.20836678A>G NCBI36
NG_021195.1:g.199012A>G
NG_021195.2:g.199012A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.372-11051A>G MANE Select ENSP00000274695.4:n.372-11051A>G
ENST00000378610.1:c.372-11051A>G ENSP00000367873.1:n.372-11051A>G
NM_017774.3:c.372-11051A>G MANE Select NP_060244.2:n.372-11051A>G
XM_006715128.2:c.372-11051A>G XP_006715191.1:n.372-11051A>G
XM_011514718.1:c.372-11051A>G XP_011513020.1:n.372-11051A>G
XM_011514719.1:c.372-11051A>G XP_011513021.1:n.372-11051A>G
XR_926265.1:n.539-11051A>G
XR_926266.1:n.652-11051A>G
XR_926267.1:n.539-11051A>G
XM_011514719.2:c.372-11051A>G XP_011513021.1:n.372-11051A>G
XM_017010986.1:c.372-11051A>G XP_016866475.1:n.372-11051A>G
XM_017010987.1:c.-383-11051A>G XP_016866476.1:n.-383-11051A>G
XM_024446481.1:c.372-11051A>G XP_024302249.1:n.372-11051A>G
XR_001743495.2:n.544-11051A>G
XR_001743496.2:n.939-11051A>G
XR_001743500.1:n.539-11051A>G
XR_001743501.1:n.539-11051A>G
XR_926265.2:n.539-11051A>G
XR_926266.2:n.652-11051A>G
XR_926267.2:n.539-11051A>G