Canonical Allele Identifier: CA215233
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 31745
ClinVar RCV Id: RCV000024436
dbSNP Id: rs199476328

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745552G>T , CM000665.2:g.8745552G>T GRCh38
NC_000003.11:g.8787238G>T , CM000665.1:g.8787238G>T GRCh37
NC_000003.10:g.8762238G>T NCBI36
NG_008797.2:g.16743G>T , LRG_329:g.16743G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.141G>T MANE Select ENSP00000341940.2:p.Glu47Asp
ENST00000343849.2:c.141G>T ENSP00000341940.2:p.Glu47Asp
ENST00000397368.2:c.141G>T ENSP00000380525.2:p.Glu47Asp
ENST00000472766.1:n.155+11562G>T
NM_001234.4:c.141G>T NP_001225.1:p.Glu47Asp
NM_033337.2:c.141G>T , LRG_329t1:c.141G>T NP_203123.1:p.Glu47Asp
NM_001234.5:c.141G>T NP_001225.1:p.Glu47Asp
NM_033337.3:c.141G>T MANE Select NP_203123.1:p.Glu47Asp