Canonical Allele Identifier: CA2664270030

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8734035-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8734035T>G , CM000665.2:g.8734035T>G	GRCh38
NC_000003.11:g.8775721T>G , CM000665.1:g.8775721T>G	GRCh37
NC_000003.10:g.8750721T>G	NCBI36
NG_008797.2:g.5226T>G , LRG_329:g.5226T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+45T>G (CAV3) MANE Select	ENSP00000341940.2:n.114+45T>G
ENST00000343849.2:c.114+45T>G (CAV3)	ENSP00000341940.2:n.114+45T>G
ENST00000397368.2:c.114+45T>G (CAV3)	ENSP00000380525.2:n.114+45T>G
ENST00000435138.5:c.64+8424A>C (SSUH2)	ENSP00000412333.1:n.64+8424A>C
ENST00000472766.1:n.155+45T>G (CAV3)
ENST00000478513.1:n.335+8424A>C (SSUH2)
NM_001234.4:c.114+45T>G (CAV3)	NP_001225.1:n.114+45T>G
NM_033337.2:c.114+45T>G , LRG_329t1:c.114+45T>G (CAV3)	NP_203123.1:n.114+45T>G
XR_940435.1:n.330+8424A>C (SSUH2)
XM_017006530.1:c.-283+8424A>C (SSUH2)	XP_016862019.1:n.-283+8424A>C
NM_001234.5:c.114+45T>G (CAV3)	NP_001225.1:n.114+45T>G
NM_033337.3:c.114+45T>G (CAV3) MANE Select	NP_203123.1:n.114+45T>G