Canonical Allele Identifier: CA412982389
Gene: TSPAN7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675857G>C , CM000685.2:g.38675857G>C GRCh38
NC_000023.10:g.38535111G>C , CM000685.1:g.38535111G>C GRCh37
NC_000023.9:g.38420055G>C NCBI36
NG_009160.1:g.119381G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.594G>C MANE Select ENSP00000367743.2:p.Gln198His
ENST00000286824.6:c.645G>C ENSP00000286824.6:p.Gln215His
ENST00000378482.6:c.594G>C ENSP00000367743.2:p.Gln198His
ENST00000419600.3:n.538G>C
ENST00000465127.1:c.684G>C ENSP00000417050.1:p.Gln228His
ENST00000471410.5:c.*620G>C ENSP00000419290.1:n.*620G>C
ENST00000475216.5:c.*587G>C ENSP00000418586.1:n.*587G>C
NM_004615.3:c.594G>C NP_004606.2:p.Gln198His
NM_004615.4:c.594G>C MANE Select NP_004606.2:p.Gln198His