Canonical Allele Identifier: CA412982392
Gene: TSPAN7 HGNC NCBI

Linked Data

gnomAD v4: X-38675858-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675858A>G , CM000685.2:g.38675858A>G GRCh38
NC_000023.10:g.38535112A>G , CM000685.1:g.38535112A>G GRCh37
NC_000023.9:g.38420056A>G NCBI36
NG_009160.1:g.119382A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.595A>G MANE Select ENSP00000367743.2:p.Lys199Glu
ENST00000286824.6:c.646A>G ENSP00000286824.6:p.Lys216Glu
ENST00000378482.6:c.595A>G ENSP00000367743.2:p.Lys199Glu
ENST00000419600.3:n.539A>G
ENST00000465127.1:c.685A>G ENSP00000417050.1:p.Lys229Glu
ENST00000471410.5:c.*621A>G ENSP00000419290.1:n.*621A>G
ENST00000475216.5:c.*588A>G ENSP00000418586.1:n.*588A>G
NM_004615.3:c.595A>G NP_004606.2:p.Lys199Glu
NM_004615.4:c.595A>G MANE Select NP_004606.2:p.Lys199Glu