Canonical Allele Identifier: CA4321885
Gene: SEMA3E HGNC NCBI

Linked Data

ClinVar Variation Id: 2070684
ClinVar RCV Id: RCV002971338 RCV003963509
dbSNP Id: rs762483567
ExAC: 7:83014628 A / C
gnomAD v2: 7-83014628-A-C
gnomAD v3: 7-83385312-A-C
gnomAD v4: 7-83385312-A-C
MyVariant Identifiers: chr7:g.83014628A>C (hg19) chr7:g.83385312A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83385312A>C , CM000669.2:g.83385312A>C GRCh38
NC_000007.13:g.83014628A>C , CM000669.1:g.83014628A>C GRCh37
NC_000007.12:g.82852564A>C NCBI36
NG_021242.1:g.268852T>G
NG_021242.2:g.268852T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.1677T>G ENSP00000405052.1:p.Arg559=
ENST00000642232.1:c.1857T>G ENSP00000494064.1:p.Arg619=
ENST00000643230.2:c.1857T>G MANE Select ENSP00000496491.1:p.Arg619=
ENST00000643441.1:n.1842T>G
ENST00000307792.7:c.1857T>G ENSP00000303212.3:p.Arg619=
ENST00000427262.5:c.1677T>G ENSP00000405052.1:p.Arg559=
NM_001178129.1:c.1677T>G NP_001171600.1:p.Arg559=
NM_012431.2:c.1857T>G NP_036563.1:p.Arg619=
XM_011516715.1:c.1857T>G XP_011515017.1:p.Arg619=
NM_012431.3:c.1857T>G MANE Select NP_036563.1:p.Arg619=
NM_001178129.2:c.1677T>G NP_001171600.1:p.Arg559=
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