Canonical Allele Identifier: CA412982297

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1016130945
• gnomAD v2: X-38535068-A-G
• gnomAD v3: X-38675814-A-G
• gnomAD v4: X-38675814-A-G
• MyVariant Identifiers: chrX:g.38535068A>G (hg19) ; chrX:g.38675814A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675814A>G , CM000685.2:g.38675814A>G	GRCh38
NC_000023.10:g.38535068A>G , CM000685.1:g.38535068A>G	GRCh37
NC_000023.9:g.38420012A>G	NCBI36
NG_009160.1:g.119338A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.551A>G MANE Select	ENSP00000367743.2:p.Gln184Arg
ENST00000286824.6:c.602A>G	ENSP00000286824.6:p.Gln201Arg
ENST00000378482.6:c.551A>G	ENSP00000367743.2:p.Gln184Arg
ENST00000419600.3:n.495A>G
ENST00000465127.1:c.641A>G	ENSP00000417050.1:p.Gln214Arg
ENST00000471410.5:c.*577A>G	ENSP00000419290.1:n.*577A>G
ENST00000475216.5:c.*544A>G	ENSP00000418586.1:n.*544A>G
ENST00000488893.5:n.734A>G
NM_004615.3:c.551A>G	NP_004606.2:p.Gln184Arg
NM_004615.4:c.551A>G MANE Select	NP_004606.2:p.Gln184Arg