Canonical Allele Identifier: CA4322230

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1969395
• ClinVar RCV Id: RCV002717169 ; RCV003963338
• dbSNP Id: rs140291139
• ExAC: 7:83036500 G / A
• gnomAD v2: 7-83036500-G-A
• gnomAD v3: 7-83407184-G-A
• gnomAD v4: 7-83407184-G-A
• MyVariant Identifiers: chr7:g.83036500G>A (hg19) ; chr7:g.83407184G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407184G>A , CM000669.2:g.83407184G>A	GRCh38
NC_000007.13:g.83036500G>A , CM000669.1:g.83036500G>A	GRCh37
NC_000007.12:g.82874436G>A	NCBI36
NG_021242.1:g.246980C>T
NG_021242.2:g.246980C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.546C>T	ENSP00000405052.1:p.Asn182=
ENST00000642232.1:c.726C>T	ENSP00000494064.1:p.Asn242=
ENST00000643230.2:c.726C>T MANE Select	ENSP00000496491.1:p.Asn242=
ENST00000643441.1:n.711C>T
ENST00000644381.1:n.289C>T
ENST00000307792.7:c.726C>T	ENSP00000303212.3:p.Asn242=
ENST00000427262.5:c.546C>T	ENSP00000405052.1:p.Asn182=
NM_001178129.1:c.546C>T	NP_001171600.1:p.Asn182=
NM_012431.2:c.726C>T	NP_036563.1:p.Asn242=
XM_011516715.1:c.726C>T	XP_011515017.1:p.Asn242=
NM_012431.3:c.726C>T MANE Select	NP_036563.1:p.Asn242=
NM_001178129.2:c.546C>T	NP_001171600.1:p.Asn182=