Canonical Allele Identifier: CA215224

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 8295
• ClinVar RCV Id: RCV000008793 ; RCV000024433
• dbSNP Id: rs121909281
• MyVariant Identifiers: chr3:g.8775602G>C (hg19) ; chr3:g.8733916G>C (hg38)
• PubMed: PMID:15580566 ; PMID:17275750

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733916G>C , CM000665.2:g.8733916G>C	GRCh38
NC_000003.11:g.8775602G>C , CM000665.1:g.8775602G>C	GRCh37
NC_000003.10:g.8750602G>C	NCBI36
NG_008797.2:g.5107G>C , LRG_329:g.5107G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.40G>C (CAV3) MANE Select	ENSP00000341940.2:p.Val14Leu
ENST00000343849.2:c.40G>C (CAV3)	ENSP00000341940.2:p.Val14Leu
ENST00000397368.2:c.40G>C (CAV3)	ENSP00000380525.2:p.Val14Leu
ENST00000435138.5:c.64+8543C>G (SSUH2)	ENSP00000412333.1:n.64+8543C>G
ENST00000472766.1:n.81G>C (CAV3)
ENST00000478513.1:n.335+8543C>G (SSUH2)
NM_001234.4:c.40G>C (CAV3)	NP_001225.1:p.Val14Leu
NM_033337.2:c.40G>C , LRG_329t1:c.40G>C (CAV3)	NP_203123.1:p.Val14Leu
XR_940435.1:n.330+8543C>G (SSUH2)
XM_017006530.1:c.-283+8543C>G (SSUH2)	XP_016862019.1:n.-283+8543C>G
NM_001234.5:c.40G>C (CAV3)	NP_001225.1:p.Val14Leu
NM_033337.3:c.40G>C (CAV3) MANE Select	NP_203123.1:p.Val14Leu