Canonical Allele Identifier: CA576266973

Gene: SEMA3E

Linked Data

• dbSNP Id: rs1385175565
• gnomAD v2: 7-83021737-A-C
• gnomAD v3: 7-83392421-A-C
• gnomAD v4: 7-83392421-A-C
• MyVariant Identifiers: chr7:g.83021737A>C (hg19) ; chr7:g.83392421A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.83392421A>C , CM000669.2:g.83392421A>C	GRCh38
NC_000007.13:g.83021737A>C , CM000669.1:g.83021737A>C	GRCh37
NC_000007.12:g.82859673A>C	NCBI36
NG_021242.1:g.261743T>G
NG_021242.2:g.261743T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000427262.6:c.1487+134T>G	ENSP00000405052.1:n.1487+134T>G
ENST00000642232.1:c.1667+134T>G	ENSP00000494064.1:n.1667+134T>G
ENST00000643230.2:c.1667+134T>G MANE Select	ENSP00000496491.1:n.1667+134T>G
ENST00000643441.1:n.1652+134T>G
ENST00000307792.7:c.1667+134T>G	ENSP00000303212.3:n.1667+134T>G
ENST00000427262.5:c.1487+134T>G	ENSP00000405052.1:n.1487+134T>G
NM_001178129.1:c.1487+134T>G	NP_001171600.1:n.1487+134T>G
NM_012431.2:c.1667+134T>G	NP_036563.1:n.1667+134T>G
XM_011516715.1:c.1667+134T>G	XP_011515017.1:n.1667+134T>G
NM_012431.3:c.1667+134T>G MANE Select	NP_036563.1:n.1667+134T>G
NM_001178129.2:c.1487+134T>G	NP_001171600.1:n.1487+134T>G