Canonical Allele Identifier: CA119425

Linked Data

ClinVar Variation Id: 8280
dbSNP Id: rs116840782

Genomic Alleles

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

Transcript Alleles

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