Canonical Allele Identifier: CA15442321
Gene: CDKAL1 HGNC NCBI

Linked Data

ClinVar Variation Id: 812171
ClinVar RCV Id: RCV001002802
dbSNP Id: rs7754840

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20661019G>C , CM000668.2:g.20661019G>C GRCh38
NC_000006.11:g.20661250G>C , CM000668.1:g.20661250G>C GRCh37
NC_000006.10:g.20769229G>C NCBI36
NG_021195.1:g.131563G>C
NG_021195.2:g.131563G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.371+11642G>C MANE Select ENSP00000274695.4:p.=
ENST00000378610.1:c.371+11642G>C ENSP00000367873.1:p.=
NM_017774.3:c.371+11642G>C MANE Select NP_060244.2:p.=
XM_006715128.2:c.371+11642G>C XP_006715191.1:p.=
XM_011514718.1:c.371+11642G>C XP_011513020.1:p.=
XM_011514719.1:c.371+11642G>C XP_011513021.1:p.=
XR_926265.1:n.538+11642G>C
XR_926266.1:n.651+11642G>C
XR_926267.1:n.538+11642G>C
XM_011514719.2:c.371+11642G>C XP_011513021.1:p.=
XM_017010986.1:c.371+11642G>C XP_016866475.1:p.=
XM_017010987.1:c.-384+11642G>C XP_016866476.1:p.=
XM_024446481.1:c.371+11642G>C XP_024302249.1:p.=
XR_001743495.2:n.543+11642G>C
XR_001743496.2:n.938+11642G>C
XR_001743500.1:n.538+11642G>C
XR_001743501.1:n.538+11642G>C
XR_926265.2:n.538+11642G>C
XR_926266.2:n.651+11642G>C
XR_926267.2:n.538+11642G>C