Canonical Allele Identifier: CA40581914
Gene: CNST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.246647139A>G , CM000663.2:g.246647139A>G GRCh38
NC_000001.10:g.246810441A>G , CM000663.1:g.246810441A>G GRCh37
NC_000001.9:g.244877064A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366513.9:c.938A>G MANE Select ENSP00000355470.4:p.Glu313Gly
ENST00000366512.7:c.938A>G ENSP00000355469.3:p.Glu313Gly
ENST00000366513.8:c.938A>G ENSP00000355470.4:p.Glu313Gly
ENST00000483271.1:n.1671A>G
NM_001139459.1:c.938A>G NP_001132931.1:p.Glu313Gly
NM_152609.2:c.938A>G NP_689822.2:p.Glu313Gly
XM_005273081.3:c.938A>G XP_005273138.2:p.Glu313Gly
XM_005273083.3:c.443A>G XP_005273140.1:p.Glu148Gly
XM_006711751.2:c.572A>G XP_006711814.1:p.Glu191Gly
XM_011544110.1:c.938A>G XP_011542412.1:p.Glu313Gly
XM_011544111.1:c.938A>G XP_011542413.1:p.Glu313Gly
XM_011544112.1:c.530A>G XP_011542414.1:p.Glu177Gly
XM_011544113.1:c.443A>G XP_011542415.1:p.Glu148Gly
XM_011544114.1:c.416A>G XP_011542416.1:p.Glu139Gly
XM_005273083.5:c.443A>G XP_005273140.1:p.Glu148Gly
XM_011544110.3:c.938A>G XP_011542412.1:p.Glu313Gly
XM_011544113.2:c.443A>G XP_011542415.1:p.Glu148Gly
XM_011544114.2:c.416A>G XP_011542416.1:p.Glu139Gly
XM_017000487.1:c.572A>G XP_016855976.1:p.Glu191Gly
XM_017000488.1:c.416A>G XP_016855977.1:p.Glu139Gly
XM_017000489.2:c.416A>G XP_016855978.1:p.Glu139Gly
XM_024453697.1:c.311A>G XP_024309465.1:p.Glu104Gly
NM_152609.3:c.938A>G MANE Select NP_689822.2:p.Glu313Gly
NM_001139459.2:c.938A>G NP_001132931.1:p.Glu313Gly