Canonical Allele Identifier: CA1132427382
Gene: TSPAN7 HGNC NCBI

Linked Data

dbSNP Id: rs2069848115
gnomAD v3: X-38675581-C-T
gnomAD v4: X-38675581-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.38675581C>T , CM000685.2:g.38675581C>T GRCh38
NC_000023.10:g.38534835C>T , CM000685.1:g.38534835C>T GRCh37
NC_000023.9:g.38419779C>T NCBI36
NG_009160.1:g.119105C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378482.7:c.442-124C>T MANE Select ENSP00000367743.2:n.442-124C>T
ENST00000286824.6:c.493-124C>T ENSP00000286824.6:n.493-124C>T
ENST00000378482.6:c.442-124C>T ENSP00000367743.2:n.442-124C>T
ENST00000419600.3:n.386-124C>T
ENST00000465127.1:c.532-124C>T ENSP00000417050.1:n.532-124C>T
ENST00000471410.5:c.*468-124C>T ENSP00000419290.1:n.*468-124C>T
ENST00000475216.5:c.*435-124C>T ENSP00000418586.1:n.*435-124C>T
ENST00000488893.5:n.625-124C>T
NM_004615.3:c.442-124C>T NP_004606.2:n.442-124C>T
NM_004615.4:c.442-124C>T MANE Select NP_004606.2:n.442-124C>T