Canonical Allele Identifier: CA135707897
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs1042617610
gnomAD v3: 6-20661057-A-T
gnomAD v4: 6-20661057-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20661057A>T , CM000668.2:g.20661057A>T GRCh38
NC_000006.11:g.20661288A>T , CM000668.1:g.20661288A>T GRCh37
NC_000006.10:g.20769267A>T NCBI36
NG_021195.1:g.131601A>T
NG_021195.2:g.131601A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000274695.8:c.371+11680A>T MANE Select ENSP00000274695.4:n.371+11680A>T
ENST00000378610.1:c.371+11680A>T ENSP00000367873.1:n.371+11680A>T
NM_017774.3:c.371+11680A>T MANE Select NP_060244.2:n.371+11680A>T
XM_006715128.2:c.371+11680A>T XP_006715191.1:n.371+11680A>T
XM_011514718.1:c.371+11680A>T XP_011513020.1:n.371+11680A>T
XM_011514719.1:c.371+11680A>T XP_011513021.1:n.371+11680A>T
XR_926265.1:n.538+11680A>T
XR_926266.1:n.651+11680A>T
XR_926267.1:n.538+11680A>T
XM_011514719.2:c.371+11680A>T XP_011513021.1:n.371+11680A>T
XM_017010986.1:c.371+11680A>T XP_016866475.1:n.371+11680A>T
XM_017010987.1:c.-384+11680A>T XP_016866476.1:n.-384+11680A>T
XM_024446481.1:c.371+11680A>T XP_024302249.1:n.371+11680A>T
XR_001743495.2:n.543+11680A>T
XR_001743496.2:n.938+11680A>T
XR_001743500.1:n.538+11680A>T
XR_001743501.1:n.538+11680A>T
XR_926265.2:n.538+11680A>T
XR_926266.2:n.651+11680A>T
XR_926267.2:n.538+11680A>T