Canonical Allele Identifier: CA640919626

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1227078335
• gnomAD v2: X-38535160-G-T
• gnomAD v4: X-38675906-G-T
• MyVariant Identifiers: chrX:g.38535160G>T (hg19) ; chrX:g.38675906G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675906G>T , CM000685.2:g.38675906G>T	GRCh38
NC_000023.10:g.38535160G>T , CM000685.1:g.38535160G>T	GRCh37
NC_000023.9:g.38420104G>T	NCBI36
NG_009160.1:g.119430G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.597+46G>T MANE Select	ENSP00000367743.2:n.597+46G>T
ENST00000286824.6:c.648+46G>T	ENSP00000286824.6:n.648+46G>T
ENST00000378482.6:c.597+46G>T	ENSP00000367743.2:n.597+46G>T
ENST00000419600.3:n.541+46G>T
ENST00000465127.1:c.687+46G>T	ENSP00000417050.1:n.687+46G>T
ENST00000471410.5:c.*623+46G>T	ENSP00000419290.1:n.*623+46G>T
ENST00000475216.5:c.*590+46G>T	ENSP00000418586.1:n.*590+46G>T
NM_004615.3:c.597+46G>T	NP_004606.2:n.597+46G>T
NM_004615.4:c.597+46G>T MANE Select	NP_004606.2:n.597+46G>T