Canonical Allele Identifier: CA412982291

Gene: TSPAN7

Linked Data

• dbSNP Id: rs776814898
• gnomAD v3: X-38675811-C-A
• gnomAD v4: X-38675811-C-A
• MyVariant Identifiers: chrX:g.38535065C>A (hg19) ; chrX:g.38675811C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675811C>A , CM000685.2:g.38675811C>A	GRCh38
NC_000023.10:g.38535065C>A , CM000685.1:g.38535065C>A	GRCh37
NC_000023.9:g.38420009C>A	NCBI36
NG_009160.1:g.119335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.548C>A MANE Select	ENSP00000367743.2:p.Pro183His
ENST00000286824.6:c.599C>A	ENSP00000286824.6:p.Pro200His
ENST00000378482.6:c.548C>A	ENSP00000367743.2:p.Pro183His
ENST00000419600.3:n.492C>A
ENST00000465127.1:c.638C>A	ENSP00000417050.1:p.Pro213His
ENST00000471410.5:c.*574C>A	ENSP00000419290.1:n.*574C>A
ENST00000475216.5:c.*541C>A	ENSP00000418586.1:n.*541C>A
ENST00000488893.5:n.731C>A
NM_004615.3:c.548C>A	NP_004606.2:p.Pro183His
NM_004615.4:c.548C>A MANE Select	NP_004606.2:p.Pro183His