Canonical Allele Identifier: CA351663367
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1791617
ClinVar RCV Id: RCV002450566
dbSNP Id: rs1377728849
gnomAD v4: 3-8745656-T-C
MyVariant Identifiers: chr3:g.8787342T>C (hg19) chr3:g.8745656T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745656T>C , CM000665.2:g.8745656T>C GRCh38
NC_000003.11:g.8787342T>C , CM000665.1:g.8787342T>C GRCh37
NC_000003.10:g.8762342T>C NCBI36
NG_008797.2:g.16847T>C , LRG_329:g.16847T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.245T>C MANE Select ENSP00000341940.2:p.Val82Ala
ENST00000343849.2:c.245T>C ENSP00000341940.2:p.Val82Ala
ENST00000397368.2:c.245T>C ENSP00000380525.2:p.Val82Ala
ENST00000472766.1:n.155+11666T>C
NM_001234.4:c.245T>C NP_001225.1:p.Val82Ala
NM_033337.2:c.245T>C , LRG_329t1:c.245T>C NP_203123.1:p.Val82Ala
NM_001234.5:c.245T>C NP_001225.1:p.Val82Ala
NM_033337.3:c.245T>C MANE Select NP_203123.1:p.Val82Ala
Search 100 bp 5'
Search 100 bp 3'