Canonical Allele Identifier: CA135719553
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs76223955
gnomAD v2: 6-20766637-C-T
gnomAD v3: 6-20766406-C-T
gnomAD v4: 6-20766406-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20766406C>T , CM000668.2:g.20766406C>T GRCh38
NC_000006.11:g.20766637C>T , CM000668.1:g.20766637C>T GRCh37
NC_000006.10:g.20874616C>T NCBI36
NG_021195.1:g.236950C>T
NG_021195.2:g.236950C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.517+7763C>T MANE Select ENSP00000274695.4:n.517+7763C>T
ENST00000378610.1:c.517+7763C>T ENSP00000367873.1:n.517+7763C>T
NM_017774.3:c.517+7763C>T MANE Select NP_060244.2:n.517+7763C>T
XM_006715128.2:c.517+7763C>T XP_006715191.1:n.517+7763C>T
XM_011514718.1:c.517+7763C>T XP_011513020.1:n.517+7763C>T
XM_011514719.1:c.517+7763C>T XP_011513021.1:n.517+7763C>T
XR_926265.1:n.684+7763C>T
XR_926266.1:n.797+7763C>T
XR_926267.1:n.684+7763C>T
XM_011514719.2:c.517+7763C>T XP_011513021.1:n.517+7763C>T
XM_017010986.1:c.517+7763C>T XP_016866475.1:n.517+7763C>T
XM_017010987.1:c.-238+7763C>T XP_016866476.1:n.-238+7763C>T
XM_024446481.1:c.517+7763C>T XP_024302249.1:n.517+7763C>T
XR_001743495.2:n.689+7763C>T
XR_001743496.2:n.1084+7763C>T
XR_001743500.1:n.684+7763C>T
XR_001743501.1:n.684+7763C>T
XR_926265.2:n.684+7763C>T
XR_926266.2:n.797+7763C>T
XR_926267.2:n.684+7763C>T