Canonical Allele Identifier: CA2577496462

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8733823-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733823C>A , CM000665.2:g.8733823C>A	GRCh38
NC_000003.11:g.8775509C>A , CM000665.1:g.8775509C>A	GRCh37
NC_000003.10:g.8750509C>A	NCBI36
NG_008797.2:g.5014C>A , LRG_329:g.5014C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.-54C>A (CAV3) MANE Select	ENSP00000341940.2:n.-54C>A
ENST00000343849.2:c.-54C>A (CAV3)	ENSP00000341940.2:n.-54C>A
ENST00000435138.5:c.64+8636G>T (SSUH2)	ENSP00000412333.1:n.64+8636G>T
ENST00000478513.1:n.335+8636G>T (SSUH2)
NM_001234.4:c.-54C>A (CAV3)	NP_001225.1:n.-54C>A
NM_033337.2:c.-54C>A , LRG_329t1:c.-54C>A (CAV3)	NP_203123.1:n.-54C>A
XR_940435.1:n.330+8636G>T (SSUH2)
XM_017006530.1:c.-283+8636G>T (SSUH2)	XP_016862019.1:n.-283+8636G>T
NM_001234.5:c.-54C>A (CAV3)	NP_001225.1:n.-54C>A
NM_033337.3:c.-54C>A (CAV3) MANE Select	NP_203123.1:n.-54C>A