Canonical Allele Identifier: CA4321965

Gene: SEMA3E

Linked Data

• dbSNP Id: rs773304273
• ExAC: 7:83021940 C / T
• gnomAD v2: 7-83021940-C-T
• gnomAD v4: 7-83392624-C-T
• COSMIC: COSM197234
• MyVariant Identifiers: chr7:g.83021940C>T (hg19) ; chr7:g.83392624C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392624C>T , CM000669.2:g.83392624C>T	GRCh38
NC_000007.13:g.83021940C>T , CM000669.1:g.83021940C>T	GRCh37
NC_000007.12:g.82859876C>T	NCBI36
NG_021242.1:g.261540G>A
NG_021242.2:g.261540G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1418G>A	ENSP00000405052.1:p.Arg473Gln
ENST00000642232.1:c.1598G>A	ENSP00000494064.1:p.Arg533Gln
ENST00000643230.2:c.1598G>A MANE Select	ENSP00000496491.1:p.Arg533Gln
ENST00000643441.1:n.1583G>A
ENST00000307792.7:c.1598G>A	ENSP00000303212.3:p.Arg533Gln
ENST00000427262.5:c.1418G>A	ENSP00000405052.1:p.Arg473Gln
NM_001178129.1:c.1418G>A	NP_001171600.1:p.Arg473Gln
NM_012431.2:c.1598G>A	NP_036563.1:p.Arg533Gln
XM_011516715.1:c.1598G>A	XP_011515017.1:p.Arg533Gln
NM_012431.3:c.1598G>A MANE Select	NP_036563.1:p.Arg533Gln
NM_001178129.2:c.1418G>A	NP_001171600.1:p.Arg473Gln