Canonical Allele Identifier: CA295934
Gene: CAV3 HGNC NCBI
SSUH2 HGNC NCBI
MyVariant.info:
GRCh38 chr3:g.8733844G>T
GRCh37 chr3:g.8775530G>T
gnomAD v2:
3:8775530 G / T
gnomAD v3:
3:8733844 G / T
gnomAD v4:
chr3-8733844-G-T
Joint Max Group AF 0.010892 (EAS)
Genomes Max Group AF 0.01013318 (EAS)
Exomes Max Group AF 0.01072828 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8733844G>T , CM000665.2:g.8733844G>T GRCh38
NC_000003.11:g.8775530G>T , CM000665.1:g.8775530G>T GRCh37
NC_000003.10:g.8750530G>T NCBI36
NG_008797.2:g.5035G>T , LRG_329:g.5035G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.-33G>T (CAV3) MANE Select ENSP00000341940.2:n.-33G>T
ENST00000343849.2:c.-33G>T (CAV3) ENSP00000341940.2:n.-33G>T
ENST00000435138.5:c.64+8615C>A (SSUH2) ENSP00000412333.1:n.64+8615C>A
ENST00000472766.1:n.9G>T (CAV3)
ENST00000478513.1:n.335+8615C>A (SSUH2)
NM_001234.4:c.-33G>T (CAV3) NP_001225.1:n.-33G>T
NM_033337.2:c.-33G>T , LRG_329t1:c.-33G>T (CAV3) NP_203123.1:n.-33G>T
XR_940435.1:n.330+8615C>A (SSUH2)
XM_017006530.1:c.-283+8615C>A (SSUH2) XP_016862019.1:n.-283+8615C>A
NM_001234.5:c.-33G>T (CAV3) NP_001225.1:n.-33G>T
NM_033337.3:c.-33G>T (CAV3) MANE Select NP_203123.1:n.-33G>T
Search 100 bp 5'
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