Canonical Allele Identifier: CA432526187
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 758962
ClinVar RCV Id: RCV000936721 RCV002320128
dbSNP Id: rs1478420018
gnomAD v2: 3-8787415-C-T
gnomAD v4: 3-8745729-C-T
MyVariant Identifiers: chr3:g.8787415C>T (hg19) chr3:g.8745729C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745729C>T , CM000665.2:g.8745729C>T GRCh38
NC_000003.11:g.8787415C>T , CM000665.1:g.8787415C>T GRCh37
NC_000003.10:g.8762415C>T NCBI36
NG_008797.2:g.16920C>T , LRG_329:g.16920C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.318C>T MANE Select ENSP00000341940.2:p.Cys106=
ENST00000343849.2:c.318C>T ENSP00000341940.2:p.Cys106=
ENST00000397368.2:c.318C>T ENSP00000380525.2:p.Cys106=
ENST00000472766.1:n.155+11739C>T
NM_001234.4:c.318C>T NP_001225.1:p.Cys106=
NM_033337.2:c.318C>T , LRG_329t1:c.318C>T NP_203123.1:p.Cys106=
NM_001234.5:c.318C>T NP_001225.1:p.Cys106=
NM_033337.3:c.318C>T MANE Select NP_203123.1:p.Cys106=
Search 100 bp 5'
Search 100 bp 3'