Canonical Allele Identifier: CA1614710505
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1768158905
gnomAD v3: 6-20641235-T-C
gnomAD v4: 6-20641235-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20641235T>C , CM000668.2:g.20641235T>C GRCh38
NC_000006.11:g.20641466T>C , CM000668.1:g.20641466T>C GRCh37
NC_000006.10:g.20749445T>C NCBI36
NG_021195.1:g.111779T>C
NG_021195.2:g.111779T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.287-8058T>C MANE Select ENSP00000274695.4:n.287-8058T>C
ENST00000378610.1:c.287-8058T>C ENSP00000367873.1:n.287-8058T>C
NM_017774.3:c.287-8058T>C MANE Select NP_060244.2:n.287-8058T>C
XM_006715128.2:c.287-8058T>C XP_006715191.1:n.287-8058T>C
XM_011514718.1:c.287-8058T>C XP_011513020.1:n.287-8058T>C
XM_011514719.1:c.287-8058T>C XP_011513021.1:n.287-8058T>C
XR_926265.1:n.454-8058T>C
XR_926266.1:n.567-8058T>C
XR_926267.1:n.454-8058T>C
XM_011514719.2:c.287-8058T>C XP_011513021.1:n.287-8058T>C
XM_017010986.1:c.287-8058T>C XP_016866475.1:n.287-8058T>C
XM_017010987.1:c.-468-8058T>C XP_016866476.1:n.-468-8058T>C
XM_024446481.1:c.287-8058T>C XP_024302249.1:n.287-8058T>C
XR_001743495.2:n.459-8058T>C
XR_001743496.2:n.854-8058T>C
XR_001743500.1:n.454-8058T>C
XR_001743501.1:n.454-8058T>C
XR_926265.2:n.454-8058T>C
XR_926266.2:n.567-8058T>C
XR_926267.2:n.454-8058T>C