Canonical Allele Identifier: CA822962265
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1430027352
gnomAD v3: 6-20657407-C-A
gnomAD v4: 6-20657407-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20657407C>A , CM000668.2:g.20657407C>A GRCh38
NC_000006.11:g.20657638C>A , CM000668.1:g.20657638C>A GRCh37
NC_000006.10:g.20765617C>A NCBI36
NG_021195.1:g.127951C>A
NG_021195.2:g.127951C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.371+8030C>A MANE Select ENSP00000274695.4:n.371+8030C>A
ENST00000378610.1:c.371+8030C>A ENSP00000367873.1:n.371+8030C>A
NM_017774.3:c.371+8030C>A MANE Select NP_060244.2:n.371+8030C>A
XM_006715128.2:c.371+8030C>A XP_006715191.1:n.371+8030C>A
XM_011514718.1:c.371+8030C>A XP_011513020.1:n.371+8030C>A
XM_011514719.1:c.371+8030C>A XP_011513021.1:n.371+8030C>A
XR_926265.1:n.538+8030C>A
XR_926266.1:n.651+8030C>A
XR_926267.1:n.538+8030C>A
XM_011514719.2:c.371+8030C>A XP_011513021.1:n.371+8030C>A
XM_017010986.1:c.371+8030C>A XP_016866475.1:n.371+8030C>A
XM_017010987.1:c.-384+8030C>A XP_016866476.1:n.-384+8030C>A
XM_024446481.1:c.371+8030C>A XP_024302249.1:n.371+8030C>A
XR_001743495.2:n.543+8030C>A
XR_001743496.2:n.938+8030C>A
XR_001743500.1:n.538+8030C>A
XR_001743501.1:n.538+8030C>A
XR_926265.2:n.538+8030C>A
XR_926266.2:n.651+8030C>A
XR_926267.2:n.538+8030C>A