Canonical Allele Identifier: CA875199930

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1362254288
• gnomAD v4: X-38675694-C-T
• MyVariant Identifiers: chrX:g.38534948C>T (hg19) ; chrX:g.38675694C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675694C>T , CM000685.2:g.38675694C>T	GRCh38
NC_000023.10:g.38534948C>T , CM000685.1:g.38534948C>T	GRCh37
NC_000023.9:g.38419892C>T	NCBI36
NG_009160.1:g.119218C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.442-11C>T MANE Select	ENSP00000367743.2:n.442-11C>T
ENST00000286824.6:c.493-11C>T	ENSP00000286824.6:n.493-11C>T
ENST00000378482.6:c.442-11C>T	ENSP00000367743.2:n.442-11C>T
ENST00000419600.3:n.386-11C>T
ENST00000465127.1:c.532-11C>T	ENSP00000417050.1:n.532-11C>T
ENST00000471410.5:c.*468-11C>T	ENSP00000419290.1:n.*468-11C>T
ENST00000475216.5:c.*435-11C>T	ENSP00000418586.1:n.*435-11C>T
ENST00000488893.5:n.625-11C>T
NM_004615.3:c.442-11C>T	NP_004606.2:n.442-11C>T
NM_004615.4:c.442-11C>T MANE Select	NP_004606.2:n.442-11C>T