Canonical Allele Identifier: CA7656879
Gene: SEMA7A HGNC NCBI
MyVariant.info:
GRCh38 chr15:g.74411588T>A
GRCh37 chr15:g.74703929T>A
Revel Score:
ENST00000261918 (MANE Select) 0.079
ENST00000543145 0.079
ENST00000542748 0.079
gnomAD v2:
15:74703929 T / A
gnomAD v3:
15:74411588 T / A
gnomAD v4:
chr15-74411588-T-A
Joint Max Group AF 0.00192083 (AFR)
Genomes Max Group AF 0.00191882 (AFR)
Exomes Max Group AF 0.00167828 (AFR)
dbSNP:
741761
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Genomic Alleles

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

Transcript Alleles

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