Canonical Allele Identifier: CA351661187

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 2761226
• ClinVar RCV Id: RCV003532378
• dbSNP Id: rs1227645764
• gnomAD v2: 3-8775581-A-G
• gnomAD v3: 3-8733895-A-G
• gnomAD v4: 3-8733895-A-G
• MyVariant Identifiers: chr3:g.8775581A>G (hg19) ; chr3:g.8733895A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733895A>G , CM000665.2:g.8733895A>G	GRCh38
NC_000003.11:g.8775581A>G , CM000665.1:g.8775581A>G	GRCh37
NC_000003.10:g.8750581A>G	NCBI36
NG_008797.2:g.5086A>G , LRG_329:g.5086A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.19A>G (CAV3) MANE Select	ENSP00000341940.2:p.Thr7Ala
ENST00000343849.2:c.19A>G (CAV3)	ENSP00000341940.2:p.Thr7Ala
ENST00000397368.2:c.19A>G (CAV3)	ENSP00000380525.2:p.Thr7Ala
ENST00000435138.5:c.64+8564T>C (SSUH2)	ENSP00000412333.1:n.64+8564T>C
ENST00000472766.1:n.60A>G (CAV3)
ENST00000478513.1:n.335+8564T>C (SSUH2)
NM_001234.4:c.19A>G (CAV3)	NP_001225.1:p.Thr7Ala
NM_033337.2:c.19A>G , LRG_329t1:c.19A>G (CAV3)	NP_203123.1:p.Thr7Ala
XR_940435.1:n.330+8564T>C (SSUH2)
XM_017006530.1:c.-283+8564T>C (SSUH2)	XP_016862019.1:n.-283+8564T>C
NM_001234.5:c.19A>G (CAV3)	NP_001225.1:p.Thr7Ala
NM_033337.3:c.19A>G (CAV3) MANE Select	NP_203123.1:p.Thr7Ala