Canonical Allele Identifier: CA367930442

Gene: SEMA3E

Linked Data

• COSMIC: COSM3031972
• MyVariant Identifiers: chr7:g.83036545A>C (hg19) ; chr7:g.83407229A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407229A>C , CM000669.2:g.83407229A>C	GRCh38
NC_000007.13:g.83036545A>C , CM000669.1:g.83036545A>C	GRCh37
NC_000007.12:g.82874481A>C	NCBI36
NG_021242.1:g.246935T>G
NG_021242.2:g.246935T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.501T>G	ENSP00000405052.1:p.Phe167Leu
ENST00000642232.1:c.681T>G	ENSP00000494064.1:p.Phe227Leu
ENST00000643230.2:c.681T>G MANE Select	ENSP00000496491.1:p.Phe227Leu
ENST00000643441.1:n.666T>G
ENST00000644381.1:n.244T>G
ENST00000307792.7:c.681T>G	ENSP00000303212.3:p.Phe227Leu
ENST00000427262.5:c.501T>G	ENSP00000405052.1:p.Phe167Leu
NM_001178129.1:c.501T>G	NP_001171600.1:p.Phe167Leu
NM_012431.2:c.681T>G	NP_036563.1:p.Phe227Leu
XM_011516715.1:c.681T>G	XP_011515017.1:p.Phe227Leu
NM_012431.3:c.681T>G MANE Select	NP_036563.1:p.Phe227Leu
NM_001178129.2:c.501T>G	NP_001171600.1:p.Phe167Leu