Canonical Allele Identifier: CA4321985

Gene: SEMA3E

Linked Data

• dbSNP Id: rs774577963
• ExAC: 7:83022087 T / C
• gnomAD v2: 7-83022087-T-C
• gnomAD v4: 7-83392771-T-C
• MyVariant Identifiers: chr7:g.83022087T>C (hg19) ; chr7:g.83392771T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392771T>C , CM000669.2:g.83392771T>C	GRCh38
NC_000007.13:g.83022087T>C , CM000669.1:g.83022087T>C	GRCh37
NC_000007.12:g.82860023T>C	NCBI36
NG_021242.1:g.261393A>G
NG_021242.2:g.261393A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.1321-50A>G	ENSP00000405052.1:n.1321-50A>G
ENST00000642232.1:c.1501-50A>G	ENSP00000494064.1:n.1501-50A>G
ENST00000643230.2:c.1501-50A>G MANE Select	ENSP00000496491.1:n.1501-50A>G
ENST00000643441.1:n.1486-50A>G
ENST00000307792.7:c.1501-50A>G	ENSP00000303212.3:n.1501-50A>G
ENST00000427262.5:c.1321-50A>G	ENSP00000405052.1:n.1321-50A>G
NM_001178129.1:c.1321-50A>G	NP_001171600.1:n.1321-50A>G
NM_012431.2:c.1501-50A>G	NP_036563.1:n.1501-50A>G
XM_011516715.1:c.1501-50A>G	XP_011515017.1:n.1501-50A>G
NM_012431.3:c.1501-50A>G MANE Select	NP_036563.1:n.1501-50A>G
NM_001178129.2:c.1321-50A>G	NP_001171600.1:n.1321-50A>G