Canonical Allele Identifier: CA4322226

Gene: SEMA3E

Linked Data

• dbSNP Id: rs750676854
• ExAC: 7:83036482 A / T
• gnomAD v2: 7-83036482-A-T
• MyVariant Identifiers: chr7:g.83036482A>T (hg19) ; chr7:g.83407166A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407166A>T , CM000669.2:g.83407166A>T	GRCh38
NC_000007.13:g.83036482A>T , CM000669.1:g.83036482A>T	GRCh37
NC_000007.12:g.82874418A>T	NCBI36
NG_021242.1:g.246998T>A
NG_021242.2:g.246998T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.564T>A	ENSP00000405052.1:p.Phe188Leu
ENST00000642232.1:c.744T>A	ENSP00000494064.1:p.Phe248Leu
ENST00000643230.2:c.744T>A MANE Select	ENSP00000496491.1:p.Phe248Leu
ENST00000643441.1:n.729T>A
ENST00000644381.1:n.307T>A
ENST00000307792.7:c.744T>A	ENSP00000303212.3:p.Phe248Leu
ENST00000427262.5:c.564T>A	ENSP00000405052.1:p.Phe188Leu
NM_001178129.1:c.564T>A	NP_001171600.1:p.Phe188Leu
NM_012431.2:c.744T>A	NP_036563.1:p.Phe248Leu
XM_011516715.1:c.744T>A	XP_011515017.1:p.Phe248Leu
NM_012431.3:c.744T>A MANE Select	NP_036563.1:p.Phe248Leu
NM_001178129.2:c.564T>A	NP_001171600.1:p.Phe188Leu