Canonical Allele Identifier: CA1490122
Gene: CNST HGNC NCBI
MyVariant.info:
Revel Score:
gnomAD v4:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.246647157G>T , CM000663.2:g.246647157G>T GRCh38
NC_000001.10:g.246810459G>T , CM000663.1:g.246810459G>T GRCh37
NC_000001.9:g.244877082G>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000366513.9:c.956G>T MANE Select ENSP00000355470.4:p.Gly319Val
ENST00000366512.7:c.956G>T ENSP00000355469.3:p.Gly319Val
ENST00000366513.8:c.956G>T ENSP00000355470.4:p.Gly319Val
ENST00000483271.1:n.1689G>T
NM_001139459.1:c.956G>T NP_001132931.1:p.Gly319Val
NM_152609.2:c.956G>T NP_689822.2:p.Gly319Val
XM_005273081.3:c.956G>T XP_005273138.2:p.Gly319Val
XM_005273083.3:c.461G>T XP_005273140.1:p.Gly154Val
XM_006711751.2:c.590G>T XP_006711814.1:p.Gly197Val
XM_011544110.1:c.956G>T XP_011542412.1:p.Gly319Val
XM_011544111.1:c.956G>T XP_011542413.1:p.Gly319Val
XM_011544112.1:c.548G>T XP_011542414.1:p.Gly183Val
XM_011544113.1:c.461G>T XP_011542415.1:p.Gly154Val
XM_011544114.1:c.434G>T XP_011542416.1:p.Gly145Val
XM_005273083.5:c.461G>T XP_005273140.1:p.Gly154Val
XM_011544110.3:c.956G>T XP_011542412.1:p.Gly319Val
XM_011544113.2:c.461G>T XP_011542415.1:p.Gly154Val
XM_011544114.2:c.434G>T XP_011542416.1:p.Gly145Val
XM_017000487.1:c.590G>T XP_016855976.1:p.Gly197Val
XM_017000488.1:c.434G>T XP_016855977.1:p.Gly145Val
XM_017000489.2:c.434G>T XP_016855978.1:p.Gly145Val
XM_024453697.1:c.329G>T XP_024309465.1:p.Gly110Val
NM_152609.3:c.956G>T MANE Select NP_689822.2:p.Gly319Val
NM_001139459.2:c.956G>T NP_001132931.1:p.Gly319Val