Canonical Allele Identifier: CA14148540
Gene: SEMA7A HGNC NCBI
COSMIC:
COSN19746480 (not active)
MyVariant.info:
GRCh38 chr15:g.74418144G>C
GRCh37 chr15:g.74710485G>C
gnomAD v2:
15:74710485 G / C
gnomAD v3:
15:74418144 G / C
gnomAD v4:
chr15-74418144-G-C
Joint Max Group AF 0.21914196 (SAS)
Genomes Max Group AF 0.22330695 (SAS)
Exomes Max Group AF 0.21822057 (SAS)
dbSNP:
2072649
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.74418144G>C , CM000677.2:g.74418144G>C GRCh38
NC_000015.9:g.74710485G>C , CM000677.1:g.74710485G>C GRCh37
NC_000015.8:g.72497538G>C NCBI36
NG_011733.1:g.20815C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000261918.9:c.372+124C>G MANE Select ENSP00000261918.4:n.372+124C>G
ENST00000542748.6:c.-124+124C>G ENSP00000441493.1:n.-124+124C>G
ENST00000261918.8:c.372+124C>G ENSP00000261918.4:n.372+124C>G
ENST00000542748.5:c.-124+124C>G ENSP00000441493.1:n.-124+124C>G
ENST00000543145.6:c.331-175C>G ENSP00000438966.2:n.331-175C>G
ENST00000567345.1:c.-124+124C>G ENSP00000454365.1:n.-124+124C>G
NM_001146029.1:c.331-175C>G NP_001139501.1:n.331-175C>G
NM_001146030.1:c.-124+124C>G NP_001139502.1:n.-124+124C>G
NM_003612.3:c.372+124C>G NP_003603.1:n.372+124C>G
NM_001146029.2:c.331-175C>G NP_001139501.1:n.331-175C>G
NM_001146030.2:c.-124+124C>G NP_001139502.1:n.-124+124C>G
NM_003612.4:c.372+124C>G NP_003603.1:n.372+124C>G
NM_003612.5:c.372+124C>G MANE Select NP_003603.1:n.372+124C>G
NM_001146029.3:c.331-175C>G NP_001139501.1:n.331-175C>G
NM_001146030.3:c.-124+124C>G NP_001139502.1:n.-124+124C>G
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