Canonical Allele Identifier: CA4322211

Gene: SEMA3E

Linked Data

• dbSNP Id: rs781177943
• ExAC: 7:83036420 A / G
• gnomAD v2: 7-83036420-A-G
• gnomAD v4: 7-83407104-A-G
• MyVariant Identifiers: chr7:g.83036420A>G (hg19) ; chr7:g.83407104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407104A>G , CM000669.2:g.83407104A>G	GRCh38
NC_000007.13:g.83036420A>G , CM000669.1:g.83036420A>G	GRCh37
NC_000007.12:g.82874356A>G	NCBI36
NG_021242.1:g.247060T>C
NG_021242.2:g.247060T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.626T>C	ENSP00000405052.1:p.Leu209Pro
ENST00000642232.1:c.806T>C	ENSP00000494064.1:p.Leu269Pro
ENST00000643230.2:c.806T>C MANE Select	ENSP00000496491.1:p.Leu269Pro
ENST00000643441.1:n.791T>C
ENST00000307792.7:c.806T>C	ENSP00000303212.3:p.Leu269Pro
ENST00000427262.5:c.626T>C	ENSP00000405052.1:p.Leu209Pro
NM_001178129.1:c.626T>C	NP_001171600.1:p.Leu209Pro
NM_012431.2:c.806T>C	NP_036563.1:p.Leu269Pro
XM_011516715.1:c.806T>C	XP_011515017.1:p.Leu269Pro
NM_012431.3:c.806T>C MANE Select	NP_036563.1:p.Leu269Pro
NM_001178129.2:c.626T>C	NP_001171600.1:p.Leu209Pro