Canonical Allele Identifier: CA181177
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8733862C>A
GRCh37 chr3:g.8775548C>A
gnomAD v2:
3:8775548 C / A
gnomAD v3:
3:8733862 C / A
gnomAD v4:
chr3-8733862-C-A
Joint Max Group AF 0.00406744 (SAS)
Genomes Max Group AF 0.00175803 (SAS)
Exomes Max Group AF 0.00414029 (SAS)
ClinVar RCV:
RCV000154691
ClinVar Variation:
136660
dbSNP:
569240109
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733862C>A , CM000665.2:g.8733862C>A GRCh38
NC_000003.11:g.8775548C>A , CM000665.1:g.8775548C>A GRCh37
NC_000003.10:g.8750548C>A NCBI36
NG_008797.2:g.5053C>A , LRG_329:g.5053C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.-15C>A (CAV3) MANE Select ENSP00000341940.2:n.-15C>A
ENST00000343849.2:c.-15C>A (CAV3) ENSP00000341940.2:n.-15C>A
ENST00000435138.5:c.64+8597G>T (SSUH2) ENSP00000412333.1:n.64+8597G>T
ENST00000472766.1:n.27C>A (CAV3)
ENST00000478513.1:n.335+8597G>T (SSUH2)
NM_001234.4:c.-15C>A (CAV3) NP_001225.1:n.-15C>A
NM_033337.2:c.-15C>A , LRG_329t1:c.-15C>A (CAV3) NP_203123.1:n.-15C>A
XR_940435.1:n.330+8597G>T (SSUH2)
XM_017006530.1:c.-283+8597G>T (SSUH2) XP_016862019.1:n.-283+8597G>T
NM_001234.5:c.-15C>A (CAV3) NP_001225.1:n.-15C>A
NM_033337.3:c.-15C>A (CAV3) MANE Select NP_203123.1:n.-15C>A
Search 100 bp 5'
Search 100 bp 3'