Canonical Allele Identifier: CA4321966

Gene: SEMA3E

Linked Data

• dbSNP Id: rs763218213
• ExAC: 7:83021954 G / A
• gnomAD v2: 7-83021954-G-A
• gnomAD v4: 7-83392638-G-A
• MyVariant Identifiers: chr7:g.83021954G>A (hg19) ; chr7:g.83392638G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392638G>A , CM000669.2:g.83392638G>A	GRCh38
NC_000007.13:g.83021954G>A , CM000669.1:g.83021954G>A	GRCh37
NC_000007.12:g.82859890G>A	NCBI36
NG_021242.1:g.261526C>T
NG_021242.2:g.261526C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1404C>T	ENSP00000405052.1:p.Asp468=
ENST00000642232.1:c.1584C>T	ENSP00000494064.1:p.Asp528=
ENST00000643230.2:c.1584C>T MANE Select	ENSP00000496491.1:p.Asp528=
ENST00000643441.1:n.1569C>T
ENST00000307792.7:c.1584C>T	ENSP00000303212.3:p.Asp528=
ENST00000427262.5:c.1404C>T	ENSP00000405052.1:p.Asp468=
NM_001178129.1:c.1404C>T	NP_001171600.1:p.Asp468=
NM_012431.2:c.1584C>T	NP_036563.1:p.Asp528=
XM_011516715.1:c.1584C>T	XP_011515017.1:p.Asp528=
NM_012431.3:c.1584C>T MANE Select	NP_036563.1:p.Asp528=
NM_001178129.2:c.1404C>T	NP_001171600.1:p.Asp468=