Canonical Allele Identifier: CA367923728

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83392719-T-A
• MyVariant Identifiers: chr7:g.83022035T>A (hg19) ; chr7:g.83392719T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392719T>A , CM000669.2:g.83392719T>A	GRCh38
NC_000007.13:g.83022035T>A , CM000669.1:g.83022035T>A	GRCh37
NC_000007.12:g.82859971T>A	NCBI36
NG_021242.1:g.261445A>T
NG_021242.2:g.261445A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1323A>T	ENSP00000405052.1:p.Gln441His
ENST00000642232.1:c.1503A>T	ENSP00000494064.1:p.Gln501His
ENST00000643230.2:c.1503A>T MANE Select	ENSP00000496491.1:p.Gln501His
ENST00000643441.1:n.1488A>T
ENST00000307792.7:c.1503A>T	ENSP00000303212.3:p.Gln501His
ENST00000427262.5:c.1323A>T	ENSP00000405052.1:p.Gln441His
NM_001178129.1:c.1323A>T	NP_001171600.1:p.Gln441His
NM_012431.2:c.1503A>T	NP_036563.1:p.Gln501His
XM_011516715.1:c.1503A>T	XP_011515017.1:p.Gln501His
NM_012431.3:c.1503A>T MANE Select	NP_036563.1:p.Gln501His
NM_001178129.2:c.1323A>T	NP_001171600.1:p.Gln441His