Canonical Allele Identifier: CA1490206
Gene: CNST HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.246647523G>A
GRCh37 chr1:g.246810825G>A
Revel Score:
ENST00000366513 (MANE Select) 0.008
ENST00000366512 0.008
gnomAD v2:
1:246810825 G / A
gnomAD v3:
1:246647523 G / A
gnomAD v4:
chr1-246647523-G-A
Joint Max Group AF 0.00030682 (NFE)
Genomes Max Group AF 0.00004765 (NFE)
Exomes Max Group AF 0.00032023 (NFE)
ClinVar RCV:
RCV004232350
ClinVar Variation:
2392924
dbSNP:
773461013
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.246647523G>A , CM000663.2:g.246647523G>A GRCh38
NC_000001.10:g.246810825G>A , CM000663.1:g.246810825G>A GRCh37
NC_000001.9:g.244877448G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366513.9:c.1322G>A MANE Select ENSP00000355470.4:p.Arg441His
ENST00000366512.7:c.1322G>A ENSP00000355469.3:p.Arg441His
ENST00000366513.8:c.1322G>A ENSP00000355470.4:p.Arg441His
ENST00000483271.1:n.2055G>A
NM_001139459.1:c.1322G>A NP_001132931.1:p.Arg441His
NM_152609.2:c.1322G>A NP_689822.2:p.Arg441His
XM_005273081.3:c.1322G>A XP_005273138.2:p.Arg441His
XM_005273083.3:c.827G>A XP_005273140.1:p.Arg276His
XM_006711751.2:c.956G>A XP_006711814.1:p.Arg319His
XM_011544110.1:c.1322G>A XP_011542412.1:p.Arg441His
XM_011544111.1:c.1322G>A XP_011542413.1:p.Arg441His
XM_011544112.1:c.914G>A XP_011542414.1:p.Arg305His
XM_011544113.1:c.827G>A XP_011542415.1:p.Arg276His
XM_011544114.1:c.800G>A XP_011542416.1:p.Arg267His
XM_005273083.5:c.827G>A XP_005273140.1:p.Arg276His
XM_011544110.3:c.1322G>A XP_011542412.1:p.Arg441His
XM_011544113.2:c.827G>A XP_011542415.1:p.Arg276His
XM_011544114.2:c.800G>A XP_011542416.1:p.Arg267His
XM_017000487.1:c.956G>A XP_016855976.1:p.Arg319His
XM_017000488.1:c.800G>A XP_016855977.1:p.Arg267His
XM_017000489.2:c.800G>A XP_016855978.1:p.Arg267His
XM_024453697.1:c.695G>A XP_024309465.1:p.Arg232His
NM_152609.3:c.1322G>A MANE Select NP_689822.2:p.Arg441His
NM_001139459.2:c.1322G>A NP_001132931.1:p.Arg441His
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