Canonical Allele Identifier: CA1086667949

Gene: CDKAL1

Linked Data

• dbSNP Id: rs1768819493
• gnomAD v3: 6-20652499-T-G
• gnomAD v4: 6-20652499-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20652499T>G , CM000668.2:g.20652499T>G	GRCh38
NC_000006.11:g.20652730T>G , CM000668.1:g.20652730T>G	GRCh37
NC_000006.10:g.20760709T>G	NCBI36
NG_021195.1:g.123043T>G
NG_021195.2:g.123043T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.371+3122T>G MANE Select	ENSP00000274695.4:n.371+3122T>G
ENST00000378610.1:c.371+3122T>G	ENSP00000367873.1:n.371+3122T>G
NM_017774.3:c.371+3122T>G MANE Select	NP_060244.2:n.371+3122T>G
XM_006715128.2:c.371+3122T>G	XP_006715191.1:n.371+3122T>G
XM_011514718.1:c.371+3122T>G	XP_011513020.1:n.371+3122T>G
XM_011514719.1:c.371+3122T>G	XP_011513021.1:n.371+3122T>G
XR_926265.1:n.538+3122T>G
XR_926266.1:n.651+3122T>G
XR_926267.1:n.538+3122T>G
XM_011514719.2:c.371+3122T>G	XP_011513021.1:n.371+3122T>G
XM_017010986.1:c.371+3122T>G	XP_016866475.1:n.371+3122T>G
XM_017010987.1:c.-384+3122T>G	XP_016866476.1:n.-384+3122T>G
XM_024446481.1:c.371+3122T>G	XP_024302249.1:n.371+3122T>G
XR_001743495.2:n.543+3122T>G
XR_001743496.2:n.938+3122T>G
XR_001743500.1:n.538+3122T>G
XR_001743501.1:n.538+3122T>G
XR_926265.2:n.538+3122T>G
XR_926266.2:n.651+3122T>G
XR_926267.2:n.538+3122T>G