Canonical Allele Identifier: CA456133507

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1481888738
• gnomAD v2: 7-83022002-A-G
• gnomAD v3: 7-83392686-A-G
• gnomAD v4: 7-83392686-A-G
• MyVariant Identifiers: chr7:g.83022002A>G (hg19) ; chr7:g.83392686A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392686A>G , CM000669.2:g.83392686A>G	GRCh38
NC_000007.13:g.83022002A>G , CM000669.1:g.83022002A>G	GRCh37
NC_000007.12:g.82859938A>G	NCBI36
NG_021242.1:g.261478T>C
NG_021242.2:g.261478T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1356T>C	ENSP00000405052.1:p.Ala452=
ENST00000642232.1:c.1536T>C	ENSP00000494064.1:p.Ala512=
ENST00000643230.2:c.1536T>C MANE Select	ENSP00000496491.1:p.Ala512=
ENST00000643441.1:n.1521T>C
ENST00000307792.7:c.1536T>C	ENSP00000303212.3:p.Ala512=
ENST00000427262.5:c.1356T>C	ENSP00000405052.1:p.Ala452=
NM_001178129.1:c.1356T>C	NP_001171600.1:p.Ala452=
NM_012431.2:c.1536T>C	NP_036563.1:p.Ala512=
XM_011516715.1:c.1536T>C	XP_011515017.1:p.Ala512=
NM_012431.3:c.1536T>C MANE Select	NP_036563.1:p.Ala512=
NM_001178129.2:c.1356T>C	NP_001171600.1:p.Ala452=