Canonical Allele Identifier: CA367930299

Gene: SEMA3E

Linked Data

• MyVariant Identifiers: chr7:g.83036484A>G (hg19) ; chr7:g.83407168A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407168A>G , CM000669.2:g.83407168A>G	GRCh38
NC_000007.13:g.83036484A>G , CM000669.1:g.83036484A>G	GRCh37
NC_000007.12:g.82874420A>G	NCBI36
NG_021242.1:g.246996T>C
NG_021242.2:g.246996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.562T>C	ENSP00000405052.1:p.Phe188Leu
ENST00000642232.1:c.742T>C	ENSP00000494064.1:p.Phe248Leu
ENST00000643230.2:c.742T>C MANE Select	ENSP00000496491.1:p.Phe248Leu
ENST00000643441.1:n.727T>C
ENST00000644381.1:n.305T>C
ENST00000307792.7:c.742T>C	ENSP00000303212.3:p.Phe248Leu
ENST00000427262.5:c.562T>C	ENSP00000405052.1:p.Phe188Leu
NM_001178129.1:c.562T>C	NP_001171600.1:p.Phe188Leu
NM_012431.2:c.742T>C	NP_036563.1:p.Phe248Leu
XM_011516715.1:c.742T>C	XP_011515017.1:p.Phe248Leu
NM_012431.3:c.742T>C MANE Select	NP_036563.1:p.Phe248Leu
NM_001178129.2:c.562T>C	NP_001171600.1:p.Phe188Leu