Canonical Allele Identifier: CA119446

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 8289
• ClinVar RCV Id: RCV000008786 ; RCV001212042
• dbSNP Id: rs1008642
• MyVariant Identifiers: chr3:g.8775661C>G (hg19) ; chr3:g.8733975C>G (hg38)
• PubMed: PMID:15580566

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733975C>G , CM000665.2:g.8733975C>G	GRCh38
NC_000003.11:g.8775661C>G , CM000665.1:g.8775661C>G	GRCh37
NC_000003.10:g.8750661C>G	NCBI36
NG_008797.2:g.5166C>G , LRG_329:g.5166C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.99C>G (CAV3) MANE Select	ENSP00000341940.2:p.Asn33Lys
ENST00000343849.2:c.99C>G (CAV3)	ENSP00000341940.2:p.Asn33Lys
ENST00000397368.2:c.99C>G (CAV3)	ENSP00000380525.2:p.Asn33Lys
ENST00000435138.5:c.64+8484G>C (SSUH2)	ENSP00000412333.1:n.64+8484G>C
ENST00000472766.1:n.140C>G (CAV3)
ENST00000478513.1:n.335+8484G>C (SSUH2)
NM_001234.4:c.99C>G (CAV3)	NP_001225.1:p.Asn33Lys
NM_033337.2:c.99C>G , LRG_329t1:c.99C>G (CAV3)	NP_203123.1:p.Asn33Lys
XR_940435.1:n.330+8484G>C (SSUH2)
XM_017006530.1:c.-283+8484G>C (SSUH2)	XP_016862019.1:n.-283+8484G>C
NM_001234.5:c.99C>G (CAV3)	NP_001225.1:p.Asn33Lys
NM_033337.3:c.99C>G (CAV3) MANE Select	NP_203123.1:p.Asn33Lys