Canonical Allele Identifier: CA295956

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 180803
• ClinVar RCV Id: RCV000157844 ; RCV000631607 ; RCV002433693
• dbSNP Id: rs139786391
• ExAC: 3:8775590 G / A
• gnomAD v2: 3-8775590-G-A
• gnomAD v3: 3-8733904-G-A
• gnomAD v4: 3-8733904-G-A
• MyVariant Identifiers: chr3:g.8775590G>A (hg19) ; chr3:g.8733904G>A (hg38)

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