Canonical Allele Identifier: CA135729714
Gene: CDKAL1 HGNC NCBI

Linked Data

dbSNP Id: rs574019641
gnomAD v3: 6-20856648-A-G
gnomAD v4: 6-20856648-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.20856648A>G , CM000668.2:g.20856648A>G GRCh38
NC_000006.11:g.20856879A>G , CM000668.1:g.20856879A>G GRCh37
NC_000006.10:g.20964858A>G NCBI36
NG_021195.1:g.327192A>G
NG_021195.2:g.327192A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000274695.8:c.742+10470A>G MANE Select ENSP00000274695.4:n.742+10470A>G
ENST00000378610.1:c.742+10470A>G ENSP00000367873.1:n.742+10470A>G
NM_017774.3:c.742+10470A>G MANE Select NP_060244.2:n.742+10470A>G
XM_006715128.2:c.742+10470A>G XP_006715191.1:n.742+10470A>G
XM_011514718.1:c.742+10470A>G XP_011513020.1:n.742+10470A>G
XM_011514719.1:c.742+10470A>G XP_011513021.1:n.742+10470A>G
XR_926265.1:n.909+10470A>G
XR_926266.1:n.1022+10470A>G
XR_926267.1:n.909+10470A>G
XM_011514719.2:c.742+10470A>G XP_011513021.1:n.742+10470A>G
XM_017010986.1:c.742+10470A>G XP_016866475.1:n.742+10470A>G
XM_017010987.1:c.-117+75383A>G XP_016866476.1:n.-117+75383A>G
XM_024446481.1:c.742+10470A>G XP_024302249.1:n.742+10470A>G
XR_001743495.2:n.914+10470A>G
XR_001743496.2:n.1309+10470A>G
XR_001743498.2:n.2641+10470A>G
XR_001743500.1:n.909+10470A>G
XR_001743501.1:n.909+10470A>G
XR_926265.2:n.909+10470A>G
XR_926266.2:n.1022+10470A>G
XR_926267.2:n.909+10470A>G