Canonical Allele Identifier: CA12183460

Gene: CDKAL1

Linked Data

• dbSNP Id: rs4510656
• gnomAD v2: 6-20766697-C-A
• gnomAD v3: 6-20766466-C-A
• gnomAD v4: 6-20766466-C-A
• MyVariant Identifiers: chr6:g.20766697C>A (hg19) ; chr6:g.20766466C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20766466C>A , CM000668.2:g.20766466C>A	GRCh38
NC_000006.11:g.20766697C>A , CM000668.1:g.20766697C>A	GRCh37
NC_000006.10:g.20874676C>A	NCBI36
NG_021195.1:g.237010C>A
NG_021195.2:g.237010C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.517+7823C>A MANE Select	ENSP00000274695.4:n.517+7823C>A
ENST00000378610.1:c.517+7823C>A	ENSP00000367873.1:n.517+7823C>A
NM_017774.3:c.517+7823C>A MANE Select	NP_060244.2:n.517+7823C>A
XM_006715128.2:c.517+7823C>A	XP_006715191.1:n.517+7823C>A
XM_011514718.1:c.517+7823C>A	XP_011513020.1:n.517+7823C>A
XM_011514719.1:c.517+7823C>A	XP_011513021.1:n.517+7823C>A
XR_926265.1:n.684+7823C>A
XR_926266.1:n.797+7823C>A
XR_926267.1:n.684+7823C>A
XM_011514719.2:c.517+7823C>A	XP_011513021.1:n.517+7823C>A
XM_017010986.1:c.517+7823C>A	XP_016866475.1:n.517+7823C>A
XM_017010987.1:c.-238+7823C>A	XP_016866476.1:n.-238+7823C>A
XM_024446481.1:c.517+7823C>A	XP_024302249.1:n.517+7823C>A
XR_001743495.2:n.689+7823C>A
XR_001743496.2:n.1084+7823C>A
XR_001743500.1:n.684+7823C>A
XR_001743501.1:n.684+7823C>A
XR_926265.2:n.684+7823C>A
XR_926266.2:n.797+7823C>A
XR_926267.2:n.684+7823C>A