Canonical Allele Identifier: CA412982277

Gene: TSPAN7

Linked Data

• dbSNP Id: rs1180004771
• gnomAD v2: X-38535059-G-T
• gnomAD v3: X-38675805-G-T
• gnomAD v4: X-38675805-G-T
• MyVariant Identifiers: chrX:g.38535059G>T (hg19) ; chrX:g.38675805G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675805G>T , CM000685.2:g.38675805G>T	GRCh38
NC_000023.10:g.38535059G>T , CM000685.1:g.38535059G>T	GRCh37
NC_000023.9:g.38420003G>T	NCBI36
NG_009160.1:g.119329G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.542G>T MANE Select	ENSP00000367743.2:p.Cys181Phe
ENST00000286824.6:c.593G>T	ENSP00000286824.6:p.Cys198Phe
ENST00000378482.6:c.542G>T	ENSP00000367743.2:p.Cys181Phe
ENST00000419600.3:n.486G>T
ENST00000465127.1:c.632G>T	ENSP00000417050.1:p.Cys211Phe
ENST00000471410.5:c.*568G>T	ENSP00000419290.1:n.*568G>T
ENST00000475216.5:c.*535G>T	ENSP00000418586.1:n.*535G>T
ENST00000488893.5:n.725G>T
NM_004615.3:c.542G>T	NP_004606.2:p.Cys181Phe
NM_004615.4:c.542G>T MANE Select	NP_004606.2:p.Cys181Phe