Canonical Allele Identifier: CA351661502

Gene: CAV3 SSUH2

Linked Data

• ClinVar Variation Id: 995331
• ClinVar RCV Id: RCV001289359
• dbSNP Id: rs116840782
• MyVariant Identifiers: chr3:g.8775646C>G (hg19) ; chr3:g.8733960C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8733960C>G , CM000665.2:g.8733960C>G	GRCh38
NC_000003.11:g.8775646C>G , CM000665.1:g.8775646C>G	GRCh37
NC_000003.10:g.8750646C>G	NCBI36
NG_008797.2:g.5151C>G , LRG_329:g.5151C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.84C>G (CAV3) MANE Select	ENSP00000341940.2:p.Asp28Glu
ENST00000343849.2:c.84C>G (CAV3)	ENSP00000341940.2:p.Asp28Glu
ENST00000397368.2:c.84C>G (CAV3)	ENSP00000380525.2:p.Asp28Glu
ENST00000435138.5:c.64+8499G>C (SSUH2)	ENSP00000412333.1:n.64+8499G>C
ENST00000472766.1:n.125C>G (CAV3)
ENST00000478513.1:n.335+8499G>C (SSUH2)
NM_001234.4:c.84C>G (CAV3)	NP_001225.1:p.Asp28Glu
NM_033337.2:c.84C>G , LRG_329t1:c.84C>G (CAV3)	NP_203123.1:p.Asp28Glu
XR_940435.1:n.330+8499G>C (SSUH2)
XM_017006530.1:c.-283+8499G>C (SSUH2)	XP_016862019.1:n.-283+8499G>C
NM_001234.5:c.84C>G (CAV3)	NP_001225.1:p.Asp28Glu
NM_033337.3:c.84C>G (CAV3) MANE Select	NP_203123.1:p.Asp28Glu