Canonical Allele Identifier: CA367923709

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 459535
• ClinVar RCV Id: RCV000557704
• gnomAD: 7:83022032 C / A
• MyVariant Identifiers: chr7:g.83022032C>A (hg19) ; chr7:g.83392716C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392716C>A , CM000669.2:g.83392716C>A	GRCh38
NC_000007.13:g.83022032C>A , CM000669.1:g.83022032C>A	GRCh37
NC_000007.12:g.82859968C>A	NCBI36
NG_021242.1:g.261448G>T
NG_021242.2:g.261448G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.1326G>T	ENSP00000405052.1:p.Gln442His
ENST00000642232.1:c.1506G>T	ENSP00000494064.1:p.Gln502His
ENST00000643230.2:c.1506G>T MANE Select	ENSP00000496491.1:p.Gln502His
ENST00000643441.1:n.1491G>T
ENST00000307792.7:c.1506G>T	ENSP00000303212.3:p.Gln502His
ENST00000427262.5:c.1326G>T	ENSP00000405052.1:p.Gln442His
NM_001178129.1:c.1326G>T	NP_001171600.1:p.Gln442His
NM_012431.2:c.1506G>T	NP_036563.1:p.Gln502His
XM_011516715.1:c.1506G>T	XP_011515017.1:p.Gln502His
NM_012431.3:c.1506G>T MANE Select	NP_036563.1:p.Gln502His
NM_001178129.2:c.1326G>T	NP_001171600.1:p.Gln442His