Canonical Allele Identifier: CA1044891549
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI

Linked Data

dbSNP Id: rs1707972581
gnomAD v3: 3-8741897-C-A
gnomAD v4: 3-8741897-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8741897C>A , CM000665.2:g.8741897C>A GRCh38
NC_000003.11:g.8783583C>A , CM000665.1:g.8783583C>A GRCh37
NC_000003.10:g.8758583C>A NCBI36
NG_008797.2:g.13088C>A , LRG_329:g.13088C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-3629C>A (CAV3) MANE Select ENSP00000341940.2:n.115-3629C>A
ENST00000343849.2:c.115-3629C>A (CAV3) ENSP00000341940.2:n.115-3629C>A
ENST00000397368.2:c.115-3629C>A (CAV3) ENSP00000380525.2:n.115-3629C>A
ENST00000435138.5:c.64+562G>T (SSUH2) ENSP00000412333.1:n.64+562G>T
ENST00000472766.1:n.155+7907C>A (CAV3)
ENST00000478513.1:n.335+562G>T (SSUH2)
NM_001234.4:c.115-3629C>A (CAV3) NP_001225.1:n.115-3629C>A
NM_033337.2:c.115-3629C>A , LRG_329t1:c.115-3629C>A (CAV3) NP_203123.1:n.115-3629C>A
XR_940435.1:n.330+562G>T (SSUH2)
XM_017006530.1:c.-283+562G>T (SSUH2) XP_016862019.1:n.-283+562G>T
NM_001234.5:c.115-3629C>A (CAV3) NP_001225.1:n.115-3629C>A
NM_033337.3:c.115-3629C>A (CAV3) MANE Select NP_203123.1:n.115-3629C>A
Search 100 bp 5'
Search 100 bp 3'