Canonical Allele Identifier: CA215207

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 31739
• ClinVar RCV Id: RCV000024425 ; RCV000157711 ; RCV000276614 ; RCV000331722 ; RCV000391443 ; RCV002226447
• dbSNP Id: rs116840771
• ExAC: 3:8775526 G / A
• gnomAD v2: 3-8775526-G-A
• gnomAD v3: 3-8733840-G-A
• gnomAD v4: 3-8733840-G-A
• COSMIC: COSN229047
• MyVariant Identifiers: chr3:g.8775526G>A (hg19) ; chr3:g.8733840G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733840G>A , CM000665.2:g.8733840G>A	GRCh38
NC_000003.11:g.8775526G>A , CM000665.1:g.8775526G>A	GRCh37
NC_000003.10:g.8750526G>A	NCBI36
NG_008797.2:g.5031G>A , LRG_329:g.5031G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.-37G>A (CAV3) MANE Select	ENSP00000341940.2:n.-37G>A
ENST00000343849.2:c.-37G>A (CAV3)	ENSP00000341940.2:n.-37G>A
ENST00000435138.5:c.64+8619C>T (SSUH2)	ENSP00000412333.1:n.64+8619C>T
ENST00000472766.1:n.5G>A (CAV3)
ENST00000478513.1:n.335+8619C>T (SSUH2)
NM_001234.4:c.-37G>A (CAV3)	NP_001225.1:n.-37G>A
NM_033337.2:c.-37G>A , LRG_329t1:c.-37G>A (CAV3)	NP_203123.1:n.-37G>A
XR_940435.1:n.330+8619C>T (SSUH2)
XM_017006530.1:c.-283+8619C>T (SSUH2)	XP_016862019.1:n.-283+8619C>T
NM_001234.5:c.-37G>A (CAV3)	NP_001225.1:n.-37G>A
NM_033337.3:c.-37G>A (CAV3) MANE Select	NP_203123.1:n.-37G>A