Canonical Allele Identifier: CA10386129
Gene: TSPAN7 HGNC NCBI

Linked Data

dbSNP Id: rs201111174
ExAC: X:38535093 C / T
gnomAD v2: X-38535093-C-T
gnomAD v3: X-38675839-C-T
gnomAD v4: X-38675839-C-T
COSMIC: COSM4379176 COSM4379177
MyVariant Identifiers: chrX:g.38535093C>T (hg19) chrX:g.38675839C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675839C>T , CM000685.2:g.38675839C>T GRCh38
NC_000023.10:g.38535093C>T , CM000685.1:g.38535093C>T GRCh37
NC_000023.9:g.38420037C>T NCBI36
NG_009160.1:g.119363C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.576C>T MANE Select ENSP00000367743.2:p.Ala192=
ENST00000286824.6:c.627C>T ENSP00000286824.6:p.Ala209=
ENST00000378482.6:c.576C>T ENSP00000367743.2:p.Ala192=
ENST00000419600.3:n.520C>T
ENST00000465127.1:c.666C>T ENSP00000417050.1:p.Ala222=
ENST00000471410.5:c.*602C>T ENSP00000419290.1:n.*602C>T
ENST00000475216.5:c.*569C>T ENSP00000418586.1:n.*569C>T
NM_004615.3:c.576C>T NP_004606.2:p.Ala192=
NM_004615.4:c.576C>T MANE Select NP_004606.2:p.Ala192=
Search 100 bp 5'
Search 100 bp 3'