Canonical Allele Identifier: CA875200428

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1176902768
• gnomAD v3: X-38675981-T-C
• gnomAD v4: X-38675981-T-C
• MyVariant Identifiers: chrX:g.38535235T>C (hg19) ; chrX:g.38675981T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675981T>C , CM000685.2:g.38675981T>C	GRCh38
NC_000023.10:g.38535235T>C , CM000685.1:g.38535235T>C	GRCh37
NC_000023.9:g.38420179T>C	NCBI36
NG_009160.1:g.119505T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.597+121T>C MANE Select	ENSP00000367743.2:n.597+121T>C
ENST00000286824.6:c.648+121T>C	ENSP00000286824.6:n.648+121T>C
ENST00000378482.6:c.597+121T>C	ENSP00000367743.2:n.597+121T>C
ENST00000419600.3:n.541+121T>C
ENST00000465127.1:c.687+121T>C	ENSP00000417050.1:n.687+121T>C
ENST00000471410.5:c.*623+121T>C	ENSP00000419290.1:n.*623+121T>C
ENST00000475216.5:c.*590+121T>C	ENSP00000418586.1:n.*590+121T>C
NM_004615.3:c.597+121T>C	NP_004606.2:n.597+121T>C
NM_004615.4:c.597+121T>C MANE Select	NP_004606.2:n.597+121T>C