Canonical Allele Identifier: CA367930364

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1295531534
• gnomAD v2: 7-83036510-C-T
• gnomAD v4: 7-83407194-C-T
• COSMIC: COSM1623222
• MyVariant Identifiers: chr7:g.83036510C>T (hg19) ; chr7:g.83407194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407194C>T , CM000669.2:g.83407194C>T	GRCh38
NC_000007.13:g.83036510C>T , CM000669.1:g.83036510C>T	GRCh37
NC_000007.12:g.82874446C>T	NCBI36
NG_021242.1:g.246970G>A
NG_021242.2:g.246970G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.536G>A	ENSP00000405052.1:p.Arg179Lys
ENST00000642232.1:c.716G>A	ENSP00000494064.1:p.Arg239Lys
ENST00000643230.2:c.716G>A MANE Select	ENSP00000496491.1:p.Arg239Lys
ENST00000643441.1:n.701G>A
ENST00000644381.1:n.279G>A
ENST00000307792.7:c.716G>A	ENSP00000303212.3:p.Arg239Lys
ENST00000427262.5:c.536G>A	ENSP00000405052.1:p.Arg179Lys
NM_001178129.1:c.536G>A	NP_001171600.1:p.Arg179Lys
NM_012431.2:c.716G>A	NP_036563.1:p.Arg239Lys
XM_011516715.1:c.716G>A	XP_011515017.1:p.Arg239Lys
NM_012431.3:c.716G>A MANE Select	NP_036563.1:p.Arg239Lys
NM_001178129.2:c.536G>A	NP_001171600.1:p.Arg179Lys