Canonical Allele Identifier: CA4321972

Gene: SEMA3E

Linked Data

• dbSNP Id: rs761480245
• ExAC: 7:83022004 C / G
• gnomAD v2: 7-83022004-C-G
• MyVariant Identifiers: chr7:g.83022004C>G (hg19) ; chr7:g.83392688C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392688C>G , CM000669.2:g.83392688C>G	GRCh38
NC_000007.13:g.83022004C>G , CM000669.1:g.83022004C>G	GRCh37
NC_000007.12:g.82859940C>G	NCBI36
NG_021242.1:g.261476G>C
NG_021242.2:g.261476G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1354G>C	ENSP00000405052.1:p.Ala452Pro
ENST00000642232.1:c.1534G>C	ENSP00000494064.1:p.Ala512Pro
ENST00000643230.2:c.1534G>C MANE Select	ENSP00000496491.1:p.Ala512Pro
ENST00000643441.1:n.1519G>C
ENST00000307792.7:c.1534G>C	ENSP00000303212.3:p.Ala512Pro
ENST00000427262.5:c.1354G>C	ENSP00000405052.1:p.Ala452Pro
NM_001178129.1:c.1354G>C	NP_001171600.1:p.Ala452Pro
NM_012431.2:c.1534G>C	NP_036563.1:p.Ala512Pro
XM_011516715.1:c.1534G>C	XP_011515017.1:p.Ala512Pro
NM_012431.3:c.1534G>C MANE Select	NP_036563.1:p.Ala512Pro
NM_001178129.2:c.1354G>C	NP_001171600.1:p.Ala452Pro