Canonical Allele Identifier: CA3652998

Gene: CDKAL1

Linked Data

• dbSNP Id: rs777679539
• ExAC: 6:20546700 G / A
• gnomAD v4: 6-20546469-G-A
• MyVariant Identifiers: chr6:g.20546700G>A (hg19) ; chr6:g.20546469G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.20546469G>A , CM000668.2:g.20546469G>A	GRCh38
NC_000006.11:g.20546700G>A , CM000668.1:g.20546700G>A	GRCh37
NC_000006.10:g.20654679G>A	NCBI36
NG_021195.1:g.17013G>A
NG_021195.2:g.17013G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000274695.8:c.119G>A MANE Select	ENSP00000274695.4:p.Arg40Lys
ENST00000378610.1:c.119G>A	ENSP00000367873.1:p.Arg40Lys
ENST00000613575.4:c.119G>A	ENSP00000481755.1:p.Arg40Lys
NM_017774.3:c.119G>A MANE Select	NP_060244.2:p.Arg40Lys
XM_006715128.2:c.119G>A	XP_006715191.1:p.Arg40Lys
XM_011514718.1:c.119G>A	XP_011513020.1:p.Arg40Lys
XM_011514719.1:c.119G>A	XP_011513021.1:p.Arg40Lys
XR_926265.1:n.286G>A
XR_926266.1:n.399G>A
XR_926267.1:n.286G>A
XM_011514719.2:c.119G>A	XP_011513021.1:p.Arg40Lys
XM_017010986.1:c.119G>A	XP_016866475.1:p.Arg40Lys
XM_017010987.1:c.-636G>A	XP_016866476.1:n.-636G>A
XM_024446481.1:c.119G>A	XP_024302249.1:p.Arg40Lys
XR_001743495.2:n.291G>A
XR_001743496.2:n.686G>A
XR_001743500.1:n.286G>A
XR_001743501.1:n.286G>A
XR_926265.2:n.286G>A
XR_926266.2:n.399G>A
XR_926267.2:n.286G>A