Canonical Allele Identifier: CA367930405

Gene: SEMA3E

Linked Data

• gnomAD v4: 7-83407212-A-C
• MyVariant Identifiers: chr7:g.83036528A>C (hg19) ; chr7:g.83407212A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83407212A>C , CM000669.2:g.83407212A>C	GRCh38
NC_000007.13:g.83036528A>C , CM000669.1:g.83036528A>C	GRCh37
NC_000007.12:g.82874464A>C	NCBI36
NG_021242.1:g.246952T>G
NG_021242.2:g.246952T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.518T>G	ENSP00000405052.1:p.Ile173Ser
ENST00000642232.1:c.698T>G	ENSP00000494064.1:p.Ile233Ser
ENST00000643230.2:c.698T>G MANE Select	ENSP00000496491.1:p.Ile233Ser
ENST00000643441.1:n.683T>G
ENST00000644381.1:n.261T>G
ENST00000307792.7:c.698T>G	ENSP00000303212.3:p.Ile233Ser
ENST00000427262.5:c.518T>G	ENSP00000405052.1:p.Ile173Ser
NM_001178129.1:c.518T>G	NP_001171600.1:p.Ile173Ser
NM_012431.2:c.698T>G	NP_036563.1:p.Ile233Ser
XM_011516715.1:c.698T>G	XP_011515017.1:p.Ile233Ser
NM_012431.3:c.698T>G MANE Select	NP_036563.1:p.Ile233Ser
NM_001178129.2:c.518T>G	NP_001171600.1:p.Ile173Ser