Canonical Allele Identifier: CA393142771
Gene: SEMA7A HGNC NCBI
MyVariant.info:
Revel Score:

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74411588T>G , CM000677.2:g.74411588T>G GRCh38
NC_000015.9:g.74703929T>G , CM000677.1:g.74703929T>G GRCh37
NC_000015.8:g.72490982T>G NCBI36
NG_011733.1:g.27371A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000261918.9:c.1545A>C MANE Select ENSP00000261918.4:p.Gln515His
ENST00000542748.6:c.1050A>C ENSP00000441493.1:p.Gln350His
ENST00000261918.8:c.1545A>C ENSP00000261918.4:p.Gln515His
ENST00000542748.5:c.1050A>C ENSP00000441493.1:p.Gln350His
ENST00000543145.6:c.1503A>C ENSP00000438966.2:p.Gln501His
ENST00000569617.1:n.52A>C
NM_001146029.1:c.1503A>C NP_001139501.1:p.Gln501His
NM_001146030.1:c.1050A>C NP_001139502.1:p.Gln350His
NM_003612.3:c.1545A>C NP_003603.1:p.Gln515His
NM_001146029.2:c.1503A>C NP_001139501.1:p.Gln501His
NM_001146030.2:c.1050A>C NP_001139502.1:p.Gln350His
NM_003612.4:c.1545A>C NP_003603.1:p.Gln515His
NM_003612.5:c.1545A>C MANE Select NP_003603.1:p.Gln515His
NM_001146029.3:c.1503A>C NP_001139501.1:p.Gln501His
NM_001146030.3:c.1050A>C NP_001139502.1:p.Gln350His