Canonical Allele Identifier: CA2693446575
Gene: TSPAN7 HGNC NCBI

Linked Data

gnomAD v4: X-38675990-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675990C>T , CM000685.2:g.38675990C>T GRCh38
NC_000023.10:g.38535244C>T , CM000685.1:g.38535244C>T GRCh37
NC_000023.9:g.38420188C>T NCBI36
NG_009160.1:g.119514C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.597+130C>T MANE Select ENSP00000367743.2:n.597+130C>T
ENST00000286824.6:c.648+130C>T ENSP00000286824.6:n.648+130C>T
ENST00000378482.6:c.597+130C>T ENSP00000367743.2:n.597+130C>T
ENST00000419600.3:n.541+130C>T
ENST00000465127.1:c.687+130C>T ENSP00000417050.1:n.687+130C>T
ENST00000471410.5:c.*623+130C>T ENSP00000419290.1:n.*623+130C>T
ENST00000475216.5:c.*590+130C>T ENSP00000418586.1:n.*590+130C>T
NM_004615.3:c.597+130C>T NP_004606.2:n.597+130C>T
NM_004615.4:c.597+130C>T MANE Select NP_004606.2:n.597+130C>T