Canonical Allele Identifier: CA351661426

Gene: CAV3 SSUH2

Linked Data

• gnomAD v4: 3-8733941-T-A
• MyVariant Identifiers: chr3:g.8775627T>A (hg19) ; chr3:g.8733941T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733941T>A , CM000665.2:g.8733941T>A	GRCh38
NC_000003.11:g.8775627T>A , CM000665.1:g.8775627T>A	GRCh37
NC_000003.10:g.8750627T>A	NCBI36
NG_008797.2:g.5132T>A , LRG_329:g.5132T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.65T>A (CAV3) MANE Select	ENSP00000341940.2:p.Ile22Asn
ENST00000343849.2:c.65T>A (CAV3)	ENSP00000341940.2:p.Ile22Asn
ENST00000397368.2:c.65T>A (CAV3)	ENSP00000380525.2:p.Ile22Asn
ENST00000435138.5:c.64+8518A>T (SSUH2)	ENSP00000412333.1:n.64+8518A>T
ENST00000472766.1:n.106T>A (CAV3)
ENST00000478513.1:n.335+8518A>T (SSUH2)
NM_001234.4:c.65T>A (CAV3)	NP_001225.1:p.Ile22Asn
NM_033337.2:c.65T>A , LRG_329t1:c.65T>A (CAV3)	NP_203123.1:p.Ile22Asn
XR_940435.1:n.330+8518A>T (SSUH2)
XM_017006530.1:c.-283+8518A>T (SSUH2)	XP_016862019.1:n.-283+8518A>T
NM_001234.5:c.65T>A (CAV3)	NP_001225.1:p.Ile22Asn
NM_033337.3:c.65T>A (CAV3) MANE Select	NP_203123.1:p.Ile22Asn