Canonical Allele Identifier: CA367923711
Gene: SEMA3E HGNC NCBI

Linked Data

ClinVar Variation Id: 2314024
ClinVar RCV Id: RCV002905174 RCV003603142
dbSNP Id: rs1170846873
MyVariant Identifiers: chr7:g.83022032C>G (hg19) chr7:g.83392716C>G (hg38)
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Genomic Alleles

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

Transcript Alleles

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