Canonical Allele Identifier: CA215145

Gene: CAV3

Linked Data

• ClinVar Variation Id: 31706
• ClinVar RCV Id: RCV000024384 ; RCV000283263 ; RCV000286772 ; RCV000323134
• dbSNP Id: rs11476
• gnomAD v2: 3-8788198-A-T
• gnomAD v3: 3-8746512-A-T
• gnomAD v4: 3-8746512-A-T
• MyVariant Identifiers: chr3:g.8788198A>T (hg19) ; chr3:g.8746512A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8746512A>T , CM000665.2:g.8746512A>T	GRCh38
NC_000003.11:g.8788198A>T , CM000665.1:g.8788198A>T	GRCh37
NC_000003.10:g.8763198A>T	NCBI36
NG_008797.2:g.17703A>T , LRG_329:g.17703A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*645A>T MANE Select	ENSP00000341940.2:n.*645A>T
ENST00000343849.2:c.*645A>T	ENSP00000341940.2:n.*645A>T
ENST00000397368.2:c.*549A>T	ENSP00000380525.2:n.*549A>T
ENST00000472766.1:n.155+12522A>T
NM_001234.4:c.*549A>T	NP_001225.1:n.*549A>T
NM_033337.2:c.*645A>T , LRG_329t1:c.*645A>T	NP_203123.1:n.*645A>T
NM_001234.5:c.*549A>T	NP_001225.1:n.*549A>T
NM_033337.3:c.*645A>T MANE Select	NP_203123.1:n.*645A>T