Canonical Allele Identifier: CA252317
Gene: SEMA3E HGNC NCBI
COSMIC:
COSM453476
MyVariant.info:
GRCh38 chr7:g.83367806G>A
GRCh37 chr7:g.82997122G>A
Revel Score:
ENST00000307792 0.410
ENST00000427262 0.410
ENST00000541514 0.410
gnomAD v2:
7:82997122 G / A
gnomAD v3:
7:83367806 G / A
gnomAD v4:
chr7-83367806-G-A
Joint Max Group AF 0.00013407 (MID)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.0001414 (MID)
ClinVar RCV:
RCV000002611
RCV002247242
ClinVar Variation:
2505
dbSNP:
121918341
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83367806G>A , CM000669.2:g.83367806G>A GRCh38
NC_000007.13:g.82997122G>A , CM000669.1:g.82997122G>A GRCh37
NC_000007.12:g.82835058G>A NCBI36
NG_021242.1:g.286358C>T
NG_021242.2:g.286358C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1928C>T ENSP00000405052.1:p.Ser643Leu
ENST00000643230.2:c.2108C>T MANE Select ENSP00000496491.1:p.Ser703Leu
ENST00000643441.1:n.2093C>T
ENST00000307792.7:c.2108C>T ENSP00000303212.3:p.Ser703Leu
ENST00000427262.5:c.1928C>T ENSP00000405052.1:p.Ser643Leu
NM_001178129.1:c.1928C>T NP_001171600.1:p.Ser643Leu
NM_012431.2:c.2108C>T NP_036563.1:p.Ser703Leu
NM_012431.3:c.2108C>T MANE Select NP_036563.1:p.Ser703Leu
NM_001178129.2:c.1928C>T NP_001171600.1:p.Ser643Leu
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