Canonical Allele Identifier: CA367923108

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1320935
• ClinVar RCV Id: RCV001776914 ; RCV002506818 ; RCV003603108
• dbSNP Id: rs2115581814
• gnomAD v4: 7-83392592-A-G
• MyVariant Identifiers: chr7:g.83021908A>G (hg19) ; chr7:g.83392592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392592A>G , CM000669.2:g.83392592A>G	GRCh38
NC_000007.13:g.83021908A>G , CM000669.1:g.83021908A>G	GRCh37
NC_000007.12:g.82859844A>G	NCBI36
NG_021242.1:g.261572T>C
NG_021242.2:g.261572T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1450T>C	ENSP00000405052.1:p.Cys484Arg
ENST00000642232.1:c.1630T>C	ENSP00000494064.1:p.Cys544Arg
ENST00000643230.2:c.1630T>C MANE Select	ENSP00000496491.1:p.Cys544Arg
ENST00000643441.1:n.1615T>C
ENST00000307792.7:c.1630T>C	ENSP00000303212.3:p.Cys544Arg
ENST00000427262.5:c.1450T>C	ENSP00000405052.1:p.Cys484Arg
NM_001178129.1:c.1450T>C	NP_001171600.1:p.Cys484Arg
NM_012431.2:c.1630T>C	NP_036563.1:p.Cys544Arg
XM_011516715.1:c.1630T>C	XP_011515017.1:p.Cys544Arg
NM_012431.3:c.1630T>C MANE Select	NP_036563.1:p.Cys544Arg
NM_001178129.2:c.1450T>C	NP_001171600.1:p.Cys484Arg