Canonical Allele Identifier: CA161162141

Gene: SEMA3E

Linked Data

• dbSNP Id: rs867199359
• gnomAD v4: 7-83392699-G-A
• MyVariant Identifiers: chr7:g.83022015G>A (hg19) ; chr7:g.83392699G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392699G>A , CM000669.2:g.83392699G>A	GRCh38
NC_000007.13:g.83022015G>A , CM000669.1:g.83022015G>A	GRCh37
NC_000007.12:g.82859951G>A	NCBI36
NG_021242.1:g.261465C>T
NG_021242.2:g.261465C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1343C>T	ENSP00000405052.1:p.Ala448Val
ENST00000642232.1:c.1523C>T	ENSP00000494064.1:p.Ala508Val
ENST00000643230.2:c.1523C>T MANE Select	ENSP00000496491.1:p.Ala508Val
ENST00000643441.1:n.1508C>T
ENST00000307792.7:c.1523C>T	ENSP00000303212.3:p.Ala508Val
ENST00000427262.5:c.1343C>T	ENSP00000405052.1:p.Ala448Val
NM_001178129.1:c.1343C>T	NP_001171600.1:p.Ala448Val
NM_012431.2:c.1523C>T	NP_036563.1:p.Ala508Val
XM_011516715.1:c.1523C>T	XP_011515017.1:p.Ala508Val
NM_012431.3:c.1523C>T MANE Select	NP_036563.1:p.Ala508Val
NM_001178129.2:c.1343C>T	NP_001171600.1:p.Ala448Val