Canonical Allele Identifier: CA367922983

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1988818
• ClinVar RCV Id: RCV002795356
• gnomAD v4: 7-83392565-G-C
• MyVariant Identifiers: chr7:g.83021881G>C (hg19) ; chr7:g.83392565G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392565G>C , CM000669.2:g.83392565G>C	GRCh38
NC_000007.13:g.83021881G>C , CM000669.1:g.83021881G>C	GRCh37
NC_000007.12:g.82859817G>C	NCBI36
NG_021242.1:g.261599C>G
NG_021242.2:g.261599C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1477C>G	ENSP00000405052.1:p.His493Asp
ENST00000642232.1:c.1657C>G	ENSP00000494064.1:p.His553Asp
ENST00000643230.2:c.1657C>G MANE Select	ENSP00000496491.1:p.His553Asp
ENST00000643441.1:n.1642C>G
ENST00000307792.7:c.1657C>G	ENSP00000303212.3:p.His553Asp
ENST00000427262.5:c.1477C>G	ENSP00000405052.1:p.His493Asp
NM_001178129.1:c.1477C>G	NP_001171600.1:p.His493Asp
NM_012431.2:c.1657C>G	NP_036563.1:p.His553Asp
XM_011516715.1:c.1657C>G	XP_011515017.1:p.His553Asp
NM_012431.3:c.1657C>G MANE Select	NP_036563.1:p.His553Asp
NM_001178129.2:c.1477C>G	NP_001171600.1:p.His493Asp