Canonical Allele Identifier: CA2236364
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 279736
ClinVar RCV Id: RCV000332606 RCV001062068 RCV001798766 RCV002494807 RCV002356363
dbSNP Id: rs201267913
ExAC: 3:8787498 C / T
gnomAD v2: 3-8787498-C-T
gnomAD v3: 3-8745812-C-T
gnomAD v4: 3-8745812-C-T
MyVariant Identifiers: chr3:g.8787498C>T (hg19) chr3:g.8745812C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745812C>T , CM000665.2:g.8745812C>T GRCh38
NC_000003.11:g.8787498C>T , CM000665.1:g.8787498C>T GRCh37
NC_000003.10:g.8762498C>T NCBI36
NG_008797.2:g.17003C>T , LRG_329:g.17003C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.401C>T MANE Select ENSP00000341940.2:p.Ala134Val
ENST00000343849.2:c.401C>T ENSP00000341940.2:p.Ala134Val
ENST00000397368.2:c.401C>T ENSP00000380525.2:p.Ala134Val
ENST00000472766.1:n.155+11822C>T
NM_001234.4:c.401C>T NP_001225.1:p.Ala134Val
NM_033337.2:c.401C>T , LRG_329t1:c.401C>T NP_203123.1:p.Ala134Val
NM_001234.5:c.401C>T NP_001225.1:p.Ala134Val
NM_033337.3:c.401C>T MANE Select NP_203123.1:p.Ala134Val
Search 100 bp 5'
Search 100 bp 3'