Canonical Allele Identifier: CA215184

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 31730
• ClinVar RCV Id: RCV000024415 ; RCV000234023 ; RCV000560643 ; RCV000770194
• dbSNP Id: rs199476325
• ExAC: 3:8775662 G / A
• gnomAD v2: 3-8775662-G-A
• gnomAD v3: 3-8733976-G-A
• gnomAD v4: 3-8733976-G-A
• MyVariant Identifiers: chr3:g.8775662G>A (hg19) ; chr3:g.8733976G>A (hg38)
• PubMed: PMID:27854218

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733976G>A , CM000665.2:g.8733976G>A	GRCh38
NC_000003.11:g.8775662G>A , CM000665.1:g.8775662G>A	GRCh37
NC_000003.10:g.8750662G>A	NCBI36
NG_008797.2:g.5167G>A , LRG_329:g.5167G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.100G>A (CAV3) MANE Select	ENSP00000341940.2:p.Glu34Lys
ENST00000343849.2:c.100G>A (CAV3)	ENSP00000341940.2:p.Glu34Lys
ENST00000397368.2:c.100G>A (CAV3)	ENSP00000380525.2:p.Glu34Lys
ENST00000435138.5:c.64+8483C>T (SSUH2)	ENSP00000412333.1:n.64+8483C>T
ENST00000472766.1:n.141G>A (CAV3)
ENST00000478513.1:n.335+8483C>T (SSUH2)
NM_001234.4:c.100G>A (CAV3)	NP_001225.1:p.Glu34Lys
NM_033337.2:c.100G>A , LRG_329t1:c.100G>A (CAV3)	NP_203123.1:p.Glu34Lys
XR_940435.1:n.330+8483C>T (SSUH2)
XM_017006530.1:c.-283+8483C>T (SSUH2)	XP_016862019.1:n.-283+8483C>T
NM_001234.5:c.100G>A (CAV3)	NP_001225.1:p.Glu34Lys
NM_033337.3:c.100G>A (CAV3) MANE Select	NP_203123.1:p.Glu34Lys