Canonical Allele Identifier: CA412982381

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1398466767
• gnomAD v2: X-38535108-C-A
• gnomAD v4: X-38675854-C-A
• MyVariant Identifiers: chrX:g.38535108C>A (hg19) ; chrX:g.38675854C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675854C>A , CM000685.2:g.38675854C>A	GRCh38
NC_000023.10:g.38535108C>A , CM000685.1:g.38535108C>A	GRCh37
NC_000023.9:g.38420052C>A	NCBI36
NG_009160.1:g.119378C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.591C>A MANE Select	ENSP00000367743.2:p.Asn197Lys
ENST00000286824.6:c.642C>A	ENSP00000286824.6:p.Asn214Lys
ENST00000378482.6:c.591C>A	ENSP00000367743.2:p.Asn197Lys
ENST00000419600.3:n.535C>A
ENST00000465127.1:c.681C>A	ENSP00000417050.1:p.Asn227Lys
ENST00000471410.5:c.*617C>A	ENSP00000419290.1:n.*617C>A
ENST00000475216.5:c.*584C>A	ENSP00000418586.1:n.*584C>A
NM_004615.3:c.591C>A	NP_004606.2:p.Asn197Lys
NM_004615.4:c.591C>A MANE Select	NP_004606.2:p.Asn197Lys