Canonical Allele Identifier: CA575816823

Gene: SEMA3E

Linked Data

• dbSNP Id: rs2245312
• gnomAD v2: 7-83036367-C-T
• gnomAD v4: 7-83407051-C-T
• MyVariant Identifiers: chr7:g.83036367C>T (hg19) ; chr7:g.83407051C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407051C>T , CM000669.2:g.83407051C>T	GRCh38
NC_000007.13:g.83036367C>T , CM000669.1:g.83036367C>T	GRCh37
NC_000007.12:g.82874303C>T	NCBI36
NG_021242.1:g.247113G>A
NG_021242.2:g.247113G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.633+46G>A	ENSP00000405052.1:n.633+46G>A
ENST00000642232.1:c.813+46G>A	ENSP00000494064.1:n.813+46G>A
ENST00000643230.2:c.813+46G>A MANE Select	ENSP00000496491.1:n.813+46G>A
ENST00000643441.1:n.798+46G>A
ENST00000307792.7:c.813+46G>A	ENSP00000303212.3:n.813+46G>A
ENST00000427262.5:c.633+46G>A	ENSP00000405052.1:n.633+46G>A
NM_001178129.1:c.633+46G>A	NP_001171600.1:n.633+46G>A
NM_012431.2:c.813+46G>A	NP_036563.1:n.813+46G>A
XM_011516715.1:c.813+46G>A	XP_011515017.1:n.813+46G>A
NM_012431.3:c.813+46G>A MANE Select	NP_036563.1:n.813+46G>A
NM_001178129.2:c.633+46G>A	NP_001171600.1:n.633+46G>A