Canonical Allele Identifier: CA10386127
Gene: TSPAN7 HGNC NCBI

Linked Data

dbSNP Id: rs765442747
ExAC: X:38535076 C / T
gnomAD v2: X-38535076-C-T
gnomAD v3: X-38675822-C-T
gnomAD v4: X-38675822-C-T
MyVariant Identifiers: chrX:g.38535076C>T (hg19) chrX:g.38675822C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675822C>T , CM000685.2:g.38675822C>T GRCh38
NC_000023.10:g.38535076C>T , CM000685.1:g.38535076C>T GRCh37
NC_000023.9:g.38420020C>T NCBI36
NG_009160.1:g.119346C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.559C>T MANE Select ENSP00000367743.2:p.His187Tyr
ENST00000286824.6:c.610C>T ENSP00000286824.6:p.His204Tyr
ENST00000378482.6:c.559C>T ENSP00000367743.2:p.His187Tyr
ENST00000419600.3:n.503C>T
ENST00000465127.1:c.649C>T ENSP00000417050.1:p.His217Tyr
ENST00000471410.5:c.*585C>T ENSP00000419290.1:n.*585C>T
ENST00000475216.5:c.*552C>T ENSP00000418586.1:n.*552C>T
NM_004615.3:c.559C>T NP_004606.2:p.His187Tyr
NM_004615.4:c.559C>T MANE Select NP_004606.2:p.His187Tyr
Search 100 bp 5'
Search 100 bp 3'