Canonical Allele Identifier: CA4321816

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 459538
• ClinVar RCV Id: RCV000559199 ; RCV001534140
• dbSNP Id: rs148649507
• ExAC: 7:82997078 C / T
• gnomAD v2: 7-82997078-C-T
• gnomAD v3: 7-83367762-C-T
• gnomAD v4: 7-83367762-C-T
• MyVariant Identifiers: chr7:g.82997078C>T (hg19) ; chr7:g.83367762C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83367762C>T , CM000669.2:g.83367762C>T	GRCh38
NC_000007.13:g.82997078C>T , CM000669.1:g.82997078C>T	GRCh37
NC_000007.12:g.82835014C>T	NCBI36
NG_021242.1:g.286402G>A
NG_021242.2:g.286402G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.1972G>A	ENSP00000405052.1:p.Gly658Ser
ENST00000643230.2:c.2152G>A MANE Select	ENSP00000496491.1:p.Gly718Ser
ENST00000643441.1:n.2137G>A
ENST00000307792.7:c.2152G>A	ENSP00000303212.3:p.Gly718Ser
ENST00000427262.5:c.1972G>A	ENSP00000405052.1:p.Gly658Ser
NM_001178129.1:c.1972G>A	NP_001171600.1:p.Gly658Ser
NM_012431.2:c.2152G>A	NP_036563.1:p.Gly718Ser
NM_012431.3:c.2152G>A MANE Select	NP_036563.1:p.Gly718Ser
NM_001178129.2:c.1972G>A	NP_001171600.1:p.Gly658Ser