Canonical Allele Identifier: CA10386109

Gene: TSPAN7

Linked Data

• dbSNP Id: rs765589510
• ExAC: X:38534951 G / C
• MyVariant Identifiers: chrX:g.38534951G>C (hg19) ; chrX:g.38675697G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.38675697G>C , CM000685.2:g.38675697G>C	GRCh38
NC_000023.10:g.38534951G>C , CM000685.1:g.38534951G>C	GRCh37
NC_000023.9:g.38419895G>C	NCBI36
NG_009160.1:g.119221G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378482.7:c.442-8G>C MANE Select	ENSP00000367743.2:n.442-8G>C
ENST00000286824.6:c.493-8G>C	ENSP00000286824.6:n.493-8G>C
ENST00000378482.6:c.442-8G>C	ENSP00000367743.2:n.442-8G>C
ENST00000419600.3:n.386-8G>C
ENST00000465127.1:c.532-8G>C	ENSP00000417050.1:n.532-8G>C
ENST00000471410.5:c.*468-8G>C	ENSP00000419290.1:n.*468-8G>C
ENST00000475216.5:c.*435-8G>C	ENSP00000418586.1:n.*435-8G>C
ENST00000488893.5:n.625-8G>C
NM_004615.3:c.442-8G>C	NP_004606.2:n.442-8G>C
NM_004615.4:c.442-8G>C MANE Select	NP_004606.2:n.442-8G>C