Canonical Allele Identifier: CA4322228

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 701713
• ClinVar RCV Id: RCV001509681 ; RCV002501302
• dbSNP Id: rs192697566
• ExAC: 7:83036488 G / T
• gnomAD v2: 7-83036488-G-T
• gnomAD v3: 7-83407172-G-T
• gnomAD v4: 7-83407172-G-T
• MyVariant Identifiers: chr7:g.83036488G>T (hg19) ; chr7:g.83407172G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407172G>T , CM000669.2:g.83407172G>T	GRCh38
NC_000007.13:g.83036488G>T , CM000669.1:g.83036488G>T	GRCh37
NC_000007.12:g.82874424G>T	NCBI36
NG_021242.1:g.246992C>A
NG_021242.2:g.246992C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.558C>A	ENSP00000405052.1:p.Phe186Leu
ENST00000642232.1:c.738C>A	ENSP00000494064.1:p.Phe246Leu
ENST00000643230.2:c.738C>A MANE Select	ENSP00000496491.1:p.Phe246Leu
ENST00000643441.1:n.723C>A
ENST00000644381.1:n.301C>A
ENST00000307792.7:c.738C>A	ENSP00000303212.3:p.Phe246Leu
ENST00000427262.5:c.558C>A	ENSP00000405052.1:p.Phe186Leu
NM_001178129.1:c.558C>A	NP_001171600.1:p.Phe186Leu
NM_012431.2:c.738C>A	NP_036563.1:p.Phe246Leu
XM_011516715.1:c.738C>A	XP_011515017.1:p.Phe246Leu
NM_012431.3:c.738C>A MANE Select	NP_036563.1:p.Phe246Leu
NM_001178129.2:c.558C>A	NP_001171600.1:p.Phe186Leu