Canonical Allele Identifier: CA456135820

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1264487877
• gnomAD v2: 7-83036473-C-T
• MyVariant Identifiers: chr7:g.83036473C>T (hg19) ; chr7:g.83407157C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407157C>T , CM000669.2:g.83407157C>T	GRCh38
NC_000007.13:g.83036473C>T , CM000669.1:g.83036473C>T	GRCh37
NC_000007.12:g.82874409C>T	NCBI36
NG_021242.1:g.247007G>A
NG_021242.2:g.247007G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.573G>A	ENSP00000405052.1:p.Lys191=
ENST00000642232.1:c.753G>A	ENSP00000494064.1:p.Lys251=
ENST00000643230.2:c.753G>A MANE Select	ENSP00000496491.1:p.Lys251=
ENST00000643441.1:n.738G>A
ENST00000644381.1:n.316G>A
ENST00000307792.7:c.753G>A	ENSP00000303212.3:p.Lys251=
ENST00000427262.5:c.573G>A	ENSP00000405052.1:p.Lys191=
NM_001178129.1:c.573G>A	NP_001171600.1:p.Lys191=
NM_012431.2:c.753G>A	NP_036563.1:p.Lys251=
XM_011516715.1:c.753G>A	XP_011515017.1:p.Lys251=
NM_012431.3:c.753G>A MANE Select	NP_036563.1:p.Lys251=
NM_001178129.2:c.573G>A	NP_001171600.1:p.Lys191=