Canonical Allele Identifier: CA295956
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI
COSMIC:
COSM4669504 (not active)
MyVariant.info:
GRCh38 chr3:g.8733904G>A
GRCh37 chr3:g.8775590G>A
Revel Score:
ENST00000343849 (MANE Select) 0.577
ENST00000397368 0.577
gnomAD v2:
3:8775590 G / A
gnomAD v3:
3:8733904 G / A
gnomAD v4:
chr3-8733904-G-A
Joint Max Group AF 0.00011196 (AFR)
Genomes Max Group AF 0.00021494 (AMR)
Exomes Max Group AF 0.00007716 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733904G>A , CM000665.2:g.8733904G>A GRCh38
NC_000003.11:g.8775590G>A , CM000665.1:g.8775590G>A GRCh37
NC_000003.10:g.8750590G>A NCBI36
NG_008797.2:g.5095G>A , LRG_329:g.5095G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.28G>A (CAV3) MANE Select ENSP00000341940.2:p.Glu10Lys
ENST00000343849.2:c.28G>A (CAV3) ENSP00000341940.2:p.Glu10Lys
ENST00000397368.2:c.28G>A (CAV3) ENSP00000380525.2:p.Glu10Lys
ENST00000435138.5:c.64+8555C>T (SSUH2) ENSP00000412333.1:n.64+8555C>T
ENST00000472766.1:n.69G>A (CAV3)
ENST00000478513.1:n.335+8555C>T (SSUH2)
NM_001234.4:c.28G>A (CAV3) NP_001225.1:p.Glu10Lys
NM_033337.2:c.28G>A , LRG_329t1:c.28G>A (CAV3) NP_203123.1:p.Glu10Lys
XR_940435.1:n.330+8555C>T (SSUH2)
XM_017006530.1:c.-283+8555C>T (SSUH2) XP_016862019.1:n.-283+8555C>T
NM_001234.5:c.28G>A (CAV3) NP_001225.1:p.Glu10Lys
NM_033337.3:c.28G>A (CAV3) MANE Select NP_203123.1:p.Glu10Lys
Search 100 bp 5'
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