Canonical Allele Identifier: CA352897123
Gene: SEMA3F HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.50185493T>G , CM000665.2:g.50185493T>G GRCh38
NC_000003.11:g.50222926T>G , CM000665.1:g.50222926T>G GRCh37
NC_000003.10:g.50197930T>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000002829.8:c.1507T>G MANE Select ENSP00000002829.3:p.Leu503Val
ENST00000002829.7:c.1507T>G ENSP00000002829.3:p.Leu503Val
ENST00000413852.5:c.1210T>G ENSP00000388931.1:p.Leu404Val
ENST00000434342.5:c.1414T>G ENSP00000409859.1:p.Leu472Val
NM_004186.3:c.1507T>G NP_004177.3:p.Leu503Val
XM_005265381.3:c.1507T>G XP_005265438.1:p.Leu503Val
XM_005265382.3:c.1414T>G XP_005265439.1:p.Leu472Val
XM_006713289.2:c.916T>G XP_006713352.1:p.Leu306Val
XM_011533998.1:c.1507T>G XP_011532300.1:p.Leu503Val
XM_011533999.1:c.1414T>G XP_011532301.1:p.Leu472Val
XM_011534000.1:c.*8T>G XP_011532302.1:n.*8T>G
XR_940487.1:n.1685T>G
NM_001318798.1:c.1210T>G NP_001305727.1:p.Leu404Val
NM_001318800.1:c.1414T>G NP_001305729.1:p.Leu472Val
NM_004186.4:c.1507T>G NP_004177.3:p.Leu503Val
XM_005265381.4:c.1507T>G XP_005265438.1:p.Leu503Val
XM_005265382.4:c.1414T>G XP_005265439.1:p.Leu472Val
XM_006713289.3:c.916T>G XP_006713352.1:p.Leu306Val
XM_011533998.2:c.1507T>G XP_011532300.1:p.Leu503Val
XM_011534000.2:c.*8T>G XP_011532302.1:n.*8T>G
XR_940487.2:n.1623T>G
NM_004186.5:c.1507T>G MANE Select NP_004177.3:p.Leu503Val
NM_001318798.2:c.1210T>G NP_001305727.1:p.Leu404Val
NM_001318800.2:c.1414T>G NP_001305729.1:p.Leu472Val