Canonical Allele Identifier: CA354827

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 221681
• ClinVar RCV Id: RCV000207418 ; RCV000231032
• dbSNP Id: rs143631464
• ExAC: 7:83014630 G / A
• gnomAD v2: 7-83014630-G-A
• gnomAD v3: 7-83385314-G-A
• gnomAD v4: 7-83385314-G-A
• MyVariant Identifiers: chr7:g.83014630G>A (hg19) ; chr7:g.83385314G>A (hg38)
• PubMed: PMID:25985275

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83385314G>A , CM000669.2:g.83385314G>A	GRCh38
NC_000007.13:g.83014630G>A , CM000669.1:g.83014630G>A	GRCh37
NC_000007.12:g.82852566G>A	NCBI36
NG_021242.1:g.268850C>T
NG_021242.2:g.268850C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.1675C>T	ENSP00000405052.1:p.Arg559Cys
ENST00000642232.1:c.1855C>T	ENSP00000494064.1:p.Arg619Cys
ENST00000643230.2:c.1855C>T MANE Select	ENSP00000496491.1:p.Arg619Cys
ENST00000643441.1:n.1840C>T
ENST00000307792.7:c.1855C>T	ENSP00000303212.3:p.Arg619Cys
ENST00000427262.5:c.1675C>T	ENSP00000405052.1:p.Arg559Cys
NM_001178129.1:c.1675C>T	NP_001171600.1:p.Arg559Cys
NM_012431.2:c.1855C>T	NP_036563.1:p.Arg619Cys
XM_011516715.1:c.1855C>T	XP_011515017.1:p.Arg619Cys
NM_012431.3:c.1855C>T MANE Select	NP_036563.1:p.Arg619Cys
NM_001178129.2:c.1675C>T	NP_001171600.1:p.Arg559Cys