Canonical Allele Identifier: CA2236359

Gene: CAV3

Linked Data

• ClinVar Variation Id: 457132
• ClinVar RCV Id: RCV000593370 ; RCV000769178 ; RCV001078913 ; RCV000726601 ; RCV002358448
• dbSNP Id: rs773934743
• ExAC: 3:8787481 C / T
• gnomAD v2: 3-8787481-C-T
• gnomAD v3: 3-8745795-C-T
• gnomAD v4: 3-8745795-C-T
• MyVariant Identifiers: chr3:g.8787481C>T (hg19) ; chr3:g.8745795C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745795C>T , CM000665.2:g.8745795C>T	GRCh38
NC_000003.11:g.8787481C>T , CM000665.1:g.8787481C>T	GRCh37
NC_000003.10:g.8762481C>T	NCBI36
NG_008797.2:g.16986C>T , LRG_329:g.16986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.384C>T MANE Select	ENSP00000341940.2:p.Phe128=
ENST00000343849.2:c.384C>T	ENSP00000341940.2:p.Phe128=
ENST00000397368.2:c.384C>T	ENSP00000380525.2:p.Phe128=
ENST00000472766.1:n.155+11805C>T
NM_001234.4:c.384C>T	NP_001225.1:p.Phe128=
NM_033337.2:c.384C>T , LRG_329t1:c.384C>T	NP_203123.1:p.Phe128=
NM_001234.5:c.384C>T	NP_001225.1:p.Phe128=
NM_033337.3:c.384C>T MANE Select	NP_203123.1:p.Phe128=