Canonical Allele Identifier: CA351661447

Gene: CAV3 SSUH2

Linked Data

• dbSNP Id: rs1559640041
• gnomAD v4: 3-8733945-C-A
• MyVariant Identifiers: chr3:g.8775631C>A (hg19) ; chr3:g.8733945C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733945C>A , CM000665.2:g.8733945C>A	GRCh38
NC_000003.11:g.8775631C>A , CM000665.1:g.8775631C>A	GRCh37
NC_000003.10:g.8750631C>A	NCBI36
NG_008797.2:g.5136C>A , LRG_329:g.5136C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.69C>A (CAV3) MANE Select	ENSP00000341940.2:p.Asp23Glu
ENST00000343849.2:c.69C>A (CAV3)	ENSP00000341940.2:p.Asp23Glu
ENST00000397368.2:c.69C>A (CAV3)	ENSP00000380525.2:p.Asp23Glu
ENST00000435138.5:c.64+8514G>T (SSUH2)	ENSP00000412333.1:n.64+8514G>T
ENST00000472766.1:n.110C>A (CAV3)
ENST00000478513.1:n.335+8514G>T (SSUH2)
NM_001234.4:c.69C>A (CAV3)	NP_001225.1:p.Asp23Glu
NM_033337.2:c.69C>A , LRG_329t1:c.69C>A (CAV3)	NP_203123.1:p.Asp23Glu
XR_940435.1:n.330+8514G>T (SSUH2)
XM_017006530.1:c.-283+8514G>T (SSUH2)	XP_016862019.1:n.-283+8514G>T
NM_001234.5:c.69C>A (CAV3)	NP_001225.1:p.Asp23Glu
NM_033337.3:c.69C>A (CAV3) MANE Select	NP_203123.1:p.Asp23Glu