Canonical Allele Identifier: CA4322210

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 2193669
• ClinVar RCV Id: RCV002612301
• dbSNP Id: rs772083253
• ExAC: 7:83036419 G / A
• gnomAD v2: 7-83036419-G-A
• gnomAD v4: 7-83407103-G-A
• MyVariant Identifiers: chr7:g.83036419G>A (hg19) ; chr7:g.83407103G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407103G>A , CM000669.2:g.83407103G>A	GRCh38
NC_000007.13:g.83036419G>A , CM000669.1:g.83036419G>A	GRCh37
NC_000007.12:g.82874355G>A	NCBI36
NG_021242.1:g.247061C>T
NG_021242.2:g.247061C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.627C>T	ENSP00000405052.1:p.Leu209=
ENST00000642232.1:c.807C>T	ENSP00000494064.1:p.Leu269=
ENST00000643230.2:c.807C>T MANE Select	ENSP00000496491.1:p.Leu269=
ENST00000643441.1:n.792C>T
ENST00000307792.7:c.807C>T	ENSP00000303212.3:p.Leu269=
ENST00000427262.5:c.627C>T	ENSP00000405052.1:p.Leu209=
NM_001178129.1:c.627C>T	NP_001171600.1:p.Leu209=
NM_012431.2:c.807C>T	NP_036563.1:p.Leu269=
XM_011516715.1:c.807C>T	XP_011515017.1:p.Leu269=
NM_012431.3:c.807C>T MANE Select	NP_036563.1:p.Leu269=
NM_001178129.2:c.627C>T	NP_001171600.1:p.Leu209=