Canonical Allele Identifier: CA342807247
Gene: SEMA4A HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.156172931G>A , CM000663.2:g.156172931G>A GRCh38
NC_000001.10:g.156142722G>A , CM000663.1:g.156142722G>A GRCh37
NC_000001.9:g.154409346G>A NCBI36
NG_027683.1:g.27988G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368285.8:c.1240G>A MANE Select ENSP00000357268.3:p.Glu414Lys
ENST00000355014.6:c.1240G>A ENSP00000347117.2:p.Glu414Lys
ENST00000368282.1:c.1240G>A ENSP00000357265.1:p.Glu414Lys
ENST00000368284.5:c.844G>A ENSP00000357267.1:p.Glu282Lys
ENST00000368285.7:c.1240G>A ENSP00000357268.3:p.Glu414Lys
ENST00000368286.6:c.1126G>A ENSP00000357269.3:p.Glu376Lys
ENST00000462892.1:n.549G>A
ENST00000487358.5:n.1137G>A
NM_001193300.1:c.1240G>A NP_001180229.1:p.Glu414Lys
NM_001193301.1:c.1240G>A NP_001180230.1:p.Glu414Lys
NM_001193302.1:c.844G>A NP_001180231.1:p.Glu282Lys
NM_022367.3:c.1240G>A NP_071762.2:p.Glu414Lys
XM_011509871.1:c.1126G>A XP_011508173.1:p.Glu376Lys
XM_011509872.1:c.1240G>A XP_011508174.1:p.Glu414Lys
XM_011509873.1:c.1240G>A XP_011508175.1:p.Glu414Lys
XM_011509874.1:c.943G>A XP_011508176.1:p.Glu315Lys
XM_011509875.1:c.943G>A XP_011508177.1:p.Glu315Lys
XM_011509876.1:c.943G>A XP_011508178.1:p.Glu315Lys
XM_011509877.1:c.943G>A XP_011508179.1:p.Glu315Lys
XM_011509878.1:c.943G>A XP_011508180.1:p.Glu315Lys
XM_011509879.1:c.733G>A XP_011508181.1:p.Glu245Lys
XM_011509871.3:c.1126G>A XP_011508173.1:p.Glu376Lys
XM_011509872.2:c.1240G>A XP_011508174.1:p.Glu414Lys
XM_011509873.2:c.1240G>A XP_011508175.1:p.Glu414Lys
XM_011509874.2:c.943G>A XP_011508176.1:p.Glu315Lys
XM_011509875.3:c.943G>A XP_011508177.1:p.Glu315Lys
XM_011509876.2:c.943G>A XP_011508178.1:p.Glu315Lys
XM_011509878.2:c.943G>A XP_011508180.1:p.Glu315Lys
XM_011509879.2:c.733G>A XP_011508181.1:p.Glu245Lys
XM_017002056.1:c.1240G>A XP_016857545.1:p.Glu414Lys
XM_017002057.1:c.733G>A XP_016857546.1:p.Glu245Lys
NM_022367.4:c.1240G>A MANE Select NP_071762.2:p.Glu414Lys
NM_001193300.2:c.1240G>A NP_001180229.1:p.Glu414Lys
NM_001370567.1:c.1240G>A NP_001357496.1:p.Glu414Lys
NM_001370568.1:c.943G>A NP_001357497.1:p.Glu315Lys
NM_001370569.1:c.733G>A NP_001357498.1:p.Glu245Lys
NM_001370571.1:c.733G>A NP_001357500.1:p.Glu245Lys
NM_001193301.2:c.1240G>A NP_001180230.1:p.Glu414Lys
NM_001193302.2:c.844G>A NP_001180231.1:p.Glu282Lys