Canonical Allele Identifier: CA367923709
Gene: SEMA3E HGNC NCBI
MyVariant.info:
GRCh38 chr7:g.83392716C>A
GRCh37 chr7:g.83022032C>A
Revel Score:
ENST00000307792 0.192
ENST00000427262 0.192
ENST00000541514 0.192
gnomAD v2:
7:83022032 C / A
gnomAD v3:
7:83392716 C / A
gnomAD v4:
chr7-83392716-C-A
Joint Max Group AF 0.00000553 (AMR)
ClinVar RCV:
RCV000557704
ClinVar Variation:
459535
dbSNP:
1170846873
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83392716C>A , CM000669.2:g.83392716C>A GRCh38
NC_000007.13:g.83022032C>A , CM000669.1:g.83022032C>A GRCh37
NC_000007.12:g.82859968C>A NCBI36
NG_021242.1:g.261448G>T
NG_021242.2:g.261448G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1326G>T ENSP00000405052.1:p.Gln442His
ENST00000642232.1:c.1506G>T ENSP00000494064.1:p.Gln502His
ENST00000643230.2:c.1506G>T MANE Select ENSP00000496491.1:p.Gln502His
ENST00000643441.1:n.1491G>T
ENST00000307792.7:c.1506G>T ENSP00000303212.3:p.Gln502His
ENST00000427262.5:c.1326G>T ENSP00000405052.1:p.Gln442His
NM_001178129.1:c.1326G>T NP_001171600.1:p.Gln442His
NM_012431.2:c.1506G>T NP_036563.1:p.Gln502His
XM_011516715.1:c.1506G>T XP_011515017.1:p.Gln502His
NM_012431.3:c.1506G>T MANE Select NP_036563.1:p.Gln502His
NM_001178129.2:c.1326G>T NP_001171600.1:p.Gln442His
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