Canonical Allele Identifier: CA456133534

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1564771
• ClinVar RCV Id: RCV002212869
• dbSNP Id: rs1788042634
• gnomAD v4: 7-83392704-T-G
• MyVariant Identifiers: chr7:g.83022020T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392704T>G , CM000669.2:g.83392704T>G	GRCh38
NC_000007.13:g.83022020T>G , CM000669.1:g.83022020T>G	GRCh37
NC_000007.12:g.82859956T>G	NCBI36
NG_021242.1:g.261460A>C
NG_021242.2:g.261460A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1338A>C	ENSP00000405052.1:p.Gly446=
ENST00000642232.1:c.1518A>C	ENSP00000494064.1:p.Gly506=
ENST00000643230.2:c.1518A>C MANE Select	ENSP00000496491.1:p.Gly506=
ENST00000643441.1:n.1503A>C
ENST00000307792.7:c.1518A>C	ENSP00000303212.3:p.Gly506=
ENST00000427262.5:c.1338A>C	ENSP00000405052.1:p.Gly446=
NM_001178129.1:c.1338A>C	NP_001171600.1:p.Gly446=
NM_012431.2:c.1518A>C	NP_036563.1:p.Gly506=
XM_011516715.1:c.1518A>C	XP_011515017.1:p.Gly506=
NM_012431.3:c.1518A>C MANE Select	NP_036563.1:p.Gly506=
NM_001178129.2:c.1338A>C	NP_001171600.1:p.Gly446=