Canonical Allele Identifier: CA161162119

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2252014
• ClinVar RCV Id: RCV004109754
• dbSNP Id: rs938708854
• gnomAD v3: 7-83392674-G-T
• gnomAD v4: 7-83392674-G-T
• MyVariant Identifiers: chr7:g.83021990G>T (hg19) ; chr7:g.83392674G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392674G>T , CM000669.2:g.83392674G>T	GRCh38
NC_000007.13:g.83021990G>T , CM000669.1:g.83021990G>T	GRCh37
NC_000007.12:g.82859926G>T	NCBI36
NG_021242.1:g.261490C>A
NG_021242.2:g.261490C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1368C>A	ENSP00000405052.1:p.Phe456Leu
ENST00000642232.1:c.1548C>A	ENSP00000494064.1:p.Phe516Leu
ENST00000643230.2:c.1548C>A MANE Select	ENSP00000496491.1:p.Phe516Leu
ENST00000643441.1:n.1533C>A
ENST00000307792.7:c.1548C>A	ENSP00000303212.3:p.Phe516Leu
ENST00000427262.5:c.1368C>A	ENSP00000405052.1:p.Phe456Leu
NM_001178129.1:c.1368C>A	NP_001171600.1:p.Phe456Leu
NM_012431.2:c.1548C>A	NP_036563.1:p.Phe516Leu
XM_011516715.1:c.1548C>A	XP_011515017.1:p.Phe516Leu
NM_012431.3:c.1548C>A MANE Select	NP_036563.1:p.Phe516Leu
NM_001178129.2:c.1368C>A	NP_001171600.1:p.Phe456Leu