Canonical Allele Identifier: CA875200429

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1418249359
• gnomAD v4: X-38675984-T-G
• MyVariant Identifiers: chrX:g.38535238T>G (hg19) ; chrX:g.38675984T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675984T>G , CM000685.2:g.38675984T>G	GRCh38
NC_000023.10:g.38535238T>G , CM000685.1:g.38535238T>G	GRCh37
NC_000023.9:g.38420182T>G	NCBI36
NG_009160.1:g.119508T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.597+124T>G MANE Select	ENSP00000367743.2:n.597+124T>G
ENST00000286824.6:c.648+124T>G	ENSP00000286824.6:n.648+124T>G
ENST00000378482.6:c.597+124T>G	ENSP00000367743.2:n.597+124T>G
ENST00000419600.3:n.541+124T>G
ENST00000465127.1:c.687+124T>G	ENSP00000417050.1:n.687+124T>G
ENST00000471410.5:c.*623+124T>G	ENSP00000419290.1:n.*623+124T>G
ENST00000475216.5:c.*590+124T>G	ENSP00000418586.1:n.*590+124T>G
NM_004615.3:c.597+124T>G	NP_004606.2:n.597+124T>G
NM_004615.4:c.597+124T>G MANE Select	NP_004606.2:n.597+124T>G