Canonical Allele Identifier: CA456133513

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 3029182
• ClinVar RCV Id: RCV003896294
• dbSNP Id: rs765143049
• gnomAD v3: 7-83392689-C-A
• gnomAD v4: 7-83392689-C-A
• MyVariant Identifiers: chr7:g.83022005C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392689C>A , CM000669.2:g.83392689C>A	GRCh38
NC_000007.13:g.83022005C>A , CM000669.1:g.83022005C>A	GRCh37
NC_000007.12:g.82859941C>A	NCBI36
NG_021242.1:g.261475G>T
NG_021242.2:g.261475G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1353G>T	ENSP00000405052.1:p.Val451=
ENST00000642232.1:c.1533G>T	ENSP00000494064.1:p.Val511=
ENST00000643230.2:c.1533G>T MANE Select	ENSP00000496491.1:p.Val511=
ENST00000643441.1:n.1518G>T
ENST00000307792.7:c.1533G>T	ENSP00000303212.3:p.Val511=
ENST00000427262.5:c.1353G>T	ENSP00000405052.1:p.Val451=
NM_001178129.1:c.1353G>T	NP_001171600.1:p.Val451=
NM_012431.2:c.1533G>T	NP_036563.1:p.Val511=
XM_011516715.1:c.1533G>T	XP_011515017.1:p.Val511=
NM_012431.3:c.1533G>T MANE Select	NP_036563.1:p.Val511=
NM_001178129.2:c.1353G>T	NP_001171600.1:p.Val451=