Canonical Allele Identifier: CA2593217347

Gene: CDKAL1

Linked Data

• dbSNP Id: rs2127763298
• gnomAD v3: 6-20652541-C-T
• gnomAD v4: 6-20652541-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20652541C>T , CM000668.2:g.20652541C>T	GRCh38
NC_000006.11:g.20652772C>T , CM000668.1:g.20652772C>T	GRCh37
NC_000006.10:g.20760751C>T	NCBI36
NG_021195.1:g.123085C>T
NG_021195.2:g.123085C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000274695.8:c.371+3164C>T MANE Select	ENSP00000274695.4:n.371+3164C>T
ENST00000378610.1:c.371+3164C>T	ENSP00000367873.1:n.371+3164C>T
NM_017774.3:c.371+3164C>T MANE Select	NP_060244.2:n.371+3164C>T
XM_006715128.2:c.371+3164C>T	XP_006715191.1:n.371+3164C>T
XM_011514718.1:c.371+3164C>T	XP_011513020.1:n.371+3164C>T
XM_011514719.1:c.371+3164C>T	XP_011513021.1:n.371+3164C>T
XR_926265.1:n.538+3164C>T
XR_926266.1:n.651+3164C>T
XR_926267.1:n.538+3164C>T
XM_011514719.2:c.371+3164C>T	XP_011513021.1:n.371+3164C>T
XM_017010986.1:c.371+3164C>T	XP_016866475.1:n.371+3164C>T
XM_017010987.1:c.-384+3164C>T	XP_016866476.1:n.-384+3164C>T
XM_024446481.1:c.371+3164C>T	XP_024302249.1:n.371+3164C>T
XR_001743495.2:n.543+3164C>T
XR_001743496.2:n.938+3164C>T
XR_001743500.1:n.538+3164C>T
XR_001743501.1:n.538+3164C>T
XR_926265.2:n.538+3164C>T
XR_926266.2:n.651+3164C>T
XR_926267.2:n.538+3164C>T