Canonical Allele Identifier: CA367930189

Gene: SEMA3E

Linked Data

• ClinVar Variation Id: 1392773
• ClinVar RCV Id: RCV001912394
• dbSNP Id: rs2115648631
• MyVariant Identifiers: chr7:g.83036433T>C (hg19) ; chr7:g.83407117T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407117T>C , CM000669.2:g.83407117T>C	GRCh38
NC_000007.13:g.83036433T>C , CM000669.1:g.83036433T>C	GRCh37
NC_000007.12:g.82874369T>C	NCBI36
NG_021242.1:g.247047A>G
NG_021242.2:g.247047A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.613A>G	ENSP00000405052.1:p.Arg205Gly
ENST00000642232.1:c.793A>G	ENSP00000494064.1:p.Arg265Gly
ENST00000643230.2:c.793A>G MANE Select	ENSP00000496491.1:p.Arg265Gly
ENST00000643441.1:n.778A>G
ENST00000307792.7:c.793A>G	ENSP00000303212.3:p.Arg265Gly
ENST00000427262.5:c.613A>G	ENSP00000405052.1:p.Arg205Gly
NM_001178129.1:c.613A>G	NP_001171600.1:p.Arg205Gly
NM_012431.2:c.793A>G	NP_036563.1:p.Arg265Gly
XM_011516715.1:c.793A>G	XP_011515017.1:p.Arg265Gly
NM_012431.3:c.793A>G MANE Select	NP_036563.1:p.Arg265Gly
NM_001178129.2:c.613A>G	NP_001171600.1:p.Arg205Gly