Canonical Allele Identifier: CA4321812
Gene: SEMA3E HGNC NCBI
ClinVar Variation:
gnomAD v4:
MyVariant.info:

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.83367727G>A , CM000669.2:g.83367727G>A GRCh38
NC_000007.13:g.82997043G>A , CM000669.1:g.82997043G>A GRCh37
NC_000007.12:g.82834979G>A NCBI36
NG_021242.1:g.286437C>T
NG_021242.2:g.286437C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000427262.6:c.2007C>T ENSP00000405052.1:p.Cys669=
ENST00000643230.2:c.2187C>T MANE Select ENSP00000496491.1:p.Cys729=
ENST00000643441.1:n.2172C>T
ENST00000307792.7:c.2187C>T ENSP00000303212.3:p.Cys729=
ENST00000427262.5:c.2007C>T ENSP00000405052.1:p.Cys669=
NM_001178129.1:c.2007C>T NP_001171600.1:p.Cys669=
NM_012431.2:c.2187C>T NP_036563.1:p.Cys729=
NM_012431.3:c.2187C>T MANE Select NP_036563.1:p.Cys729=
NM_001178129.2:c.2007C>T NP_001171600.1:p.Cys669=