Canonical Allele Identifier: CA4321838

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 459536
• ClinVar RCV Id: RCV000529199 ; RCV001591208 ; RCV002527698 ; RCV003962481
• dbSNP Id: rs144370841
• ExAC: 7:82997182 T / C
• gnomAD v2: 7-82997182-T-C
• gnomAD v3: 7-83367866-T-C
• gnomAD v4: 7-83367866-T-C
• MyVariant Identifiers: chr7:g.82997182T>C (hg19) ; chr7:g.83367866T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83367866T>C , CM000669.2:g.83367866T>C	GRCh38
NC_000007.13:g.82997182T>C , CM000669.1:g.82997182T>C	GRCh37
NC_000007.12:g.82835118T>C	NCBI36
NG_021242.1:g.286298A>G
NG_021242.2:g.286298A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000427262.6:c.1868A>G	ENSP00000405052.1:p.Asn623Ser
ENST00000643230.2:c.2048A>G MANE Select	ENSP00000496491.1:p.Asn683Ser
ENST00000643441.1:n.2033A>G
ENST00000307792.7:c.2048A>G	ENSP00000303212.3:p.Asn683Ser
ENST00000427262.5:c.1868A>G	ENSP00000405052.1:p.Asn623Ser
NM_001178129.1:c.1868A>G	NP_001171600.1:p.Asn623Ser
NM_012431.2:c.2048A>G	NP_036563.1:p.Asn683Ser
NM_012431.3:c.2048A>G MANE Select	NP_036563.1:p.Asn683Ser
NM_001178129.2:c.1868A>G	NP_001171600.1:p.Asn623Ser