Canonical Allele Identifier: CA215208

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 31740
• ClinVar RCV Id: RCV000024426 ; RCV001238633 ; RCV002496441
• dbSNP Id: rs116840787
• gnomAD v4: 3-8733992-T-C
• MyVariant Identifiers: chr3:g.8775678T>C (hg19) ; chr3:g.8733992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733992T>C , CM000665.2:g.8733992T>C	GRCh38
NC_000003.11:g.8775678T>C , CM000665.1:g.8775678T>C	GRCh37
NC_000003.10:g.8750678T>C	NCBI36
NG_008797.2:g.5183T>C , LRG_329:g.5183T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.114+2T>C (CAV3) MANE Select	ENSP00000341940.2:n.114+2T>C
ENST00000343849.2:c.114+2T>C (CAV3)	ENSP00000341940.2:n.114+2T>C
ENST00000397368.2:c.114+2T>C (CAV3)	ENSP00000380525.2:n.114+2T>C
ENST00000435138.5:c.64+8467A>G (SSUH2)	ENSP00000412333.1:n.64+8467A>G
ENST00000472766.1:n.155+2T>C (CAV3)
ENST00000478513.1:n.335+8467A>G (SSUH2)
NM_001234.4:c.114+2T>C (CAV3)	NP_001225.1:n.114+2T>C
NM_033337.2:c.114+2T>C , LRG_329t1:c.114+2T>C (CAV3)	NP_203123.1:n.114+2T>C
XR_940435.1:n.330+8467A>G (SSUH2)
XM_017006530.1:c.-283+8467A>G (SSUH2)	XP_016862019.1:n.-283+8467A>G
NM_001234.5:c.114+2T>C (CAV3)	NP_001225.1:n.114+2T>C
NM_033337.3:c.114+2T>C (CAV3) MANE Select	NP_203123.1:n.114+2T>C