Canonical Allele Identifier: CA383190150

Gene: CHEK1

Linked Data

• ClinVar Variation Id: 496140
• ClinVar RCV Id: RCV000586016
• dbSNP Id: rs1555067411
• MyVariant Identifiers: chr11:g.125497521A>G (hg19) ; chr11:g.125627626A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.125627626A>G , CM000673.2:g.125627626A>G	GRCh38
NC_000011.9:g.125497521A>G , CM000673.1:g.125497521A>G	GRCh37
NC_000011.8:g.125002731A>G	NCBI36
NG_030049.1:g.7491A>G
NG_030049.2:g.7491A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711049.1:c.337+793A>G	ENSP00000518558.1:n.337+793A>G
ENST00000438015.7:c.85A>G MANE Select	ENSP00000388648.1:p.Arg29Gly
ENST00000278916.8:c.85A>G	ENSP00000278916.4:p.Arg29Gly
ENST00000438015.6:c.85A>G	ENSP00000388648.1:p.Arg29Gly
ENST00000524737.6:c.85A>G	ENSP00000432890.1:p.Arg29Gly
ENST00000527013.6:c.85A>G	ENSP00000431525.2:p.Arg29Gly
ENST00000531062.2:n.538A>G
ENST00000532449.6:c.85A>G	ENSP00000481616.2:p.Arg29Gly
ENST00000278916.7:c.85A>G	ENSP00000278916.3:p.Arg29Gly
ENST00000427383.6:c.337+793A>G	ENSP00000391090.2:n.337+793A>G
ENST00000428830.6:c.85A>G	ENSP00000412504.2:p.Arg29Gly
ENST00000438015.5:c.85A>G	ENSP00000388648.1:p.Arg29Gly
ENST00000524737.5:c.85A>G	ENSP00000432890.1:p.Arg29Gly
ENST00000525396.5:c.*3A>G	ENSP00000434141.2:n.*3A>G
ENST00000526937.5:c.85A>G	ENSP00000431815.1:p.Arg29Gly
ENST00000527013.5:c.85A>G	ENSP00000431525.1:p.Arg29Gly
ENST00000531607.5:c.-39A>G	ENSP00000477588.1:n.-39A>G
ENST00000532449.5:c.85A>G	ENSP00000481616.1:p.Arg29Gly
ENST00000532669.5:c.52+806A>G	ENSP00000434646.2:n.52+806A>G
ENST00000533778.6:c.85A>G	ENSP00000433103.1:p.Arg29Gly
ENST00000534070.5:c.85A>G	ENSP00000435371.1:p.Arg29Gly
ENST00000534685.5:c.85A>G	ENSP00000432470.1:p.Arg29Gly
ENST00000544373.5:c.7+793A>G	ENSP00000442317.2:n.7+793A>G
NM_001114121.2:c.85A>G	NP_001107593.1:p.Arg29Gly
NM_001114122.2:c.85A>G	NP_001107594.1:p.Arg29Gly
NM_001244846.1:c.85A>G	NP_001231775.1:p.Arg29Gly
NM_001274.5:c.85A>G	NP_001265.2:p.Arg29Gly
NR_045204.1:n.962+793A>G
NR_045205.1:n.519A>G
XM_011542560.1:c.337+793A>G	XP_011540862.1:n.337+793A>G
XM_011542561.1:c.337+793A>G	XP_011540863.1:n.337+793A>G
XM_011542562.1:c.88+793A>G	XP_011540864.1:n.88+793A>G
XM_011542563.1:c.7+793A>G	XP_011540865.1:n.7+793A>G
NM_001330427.1:c.337+793A>G	NP_001317356.1:n.337+793A>G
NM_001330428.1:c.7+793A>G	NP_001317357.1:n.7+793A>G
XM_011542560.2:c.337+793A>G	XP_011540862.1:n.337+793A>G
XM_017017146.2:c.85A>G	XP_016872635.1:p.Arg29Gly
XM_024448337.1:c.85A>G	XP_024304105.1:p.Arg29Gly
NM_001114122.3:c.85A>G MANE Select	NP_001107594.1:p.Arg29Gly
NM_001330427.2:c.-15+793A>G	NP_001317356.2:n.-15+793A>G