Canonical Allele Identifier: CA4321834

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2139692
• ClinVar RCV Id: RCV003066659 ; RCV003916718
• dbSNP Id: rs534303369
• ExAC: 7:82997175 G / A
• gnomAD v2: 7-82997175-G-A
• gnomAD v3: 7-83367859-G-A
• gnomAD v4: 7-83367859-G-A
• COSMIC: COSM5520879
• MyVariant Identifiers: chr7:g.82997175G>A (hg19) ; chr7:g.83367859G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83367859G>A , CM000669.2:g.83367859G>A	GRCh38
NC_000007.13:g.82997175G>A , CM000669.1:g.82997175G>A	GRCh37
NC_000007.12:g.82835111G>A	NCBI36
NG_021242.1:g.286305C>T
NG_021242.2:g.286305C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1875C>T	ENSP00000405052.1:p.Asp625=
ENST00000643230.2:c.2055C>T MANE Select	ENSP00000496491.1:p.Asp685=
ENST00000643441.1:n.2040C>T
ENST00000307792.7:c.2055C>T	ENSP00000303212.3:p.Asp685=
ENST00000427262.5:c.1875C>T	ENSP00000405052.1:p.Asp625=
NM_001178129.1:c.1875C>T	NP_001171600.1:p.Asp625=
NM_012431.2:c.2055C>T	NP_036563.1:p.Asp685=
NM_012431.3:c.2055C>T MANE Select	NP_036563.1:p.Asp685=
NM_001178129.2:c.1875C>T	NP_001171600.1:p.Asp625=