Canonical Allele Identifier: CA241819
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 195395
ClinVar RCV Id: RCV000175964 RCV001403467
dbSNP Id: rs794727305
gnomAD v4: 3-8745723-G-A
MyVariant Identifiers: chr3:g.8787409G>A (hg19) chr3:g.8745723G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745723G>A , CM000665.2:g.8745723G>A GRCh38
NC_000003.11:g.8787409G>A , CM000665.1:g.8787409G>A GRCh37
NC_000003.10:g.8762409G>A NCBI36
NG_008797.2:g.16914G>A , LRG_329:g.16914G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.312G>A MANE Select ENSP00000341940.2:p.Val104=
ENST00000343849.2:c.312G>A ENSP00000341940.2:p.Val104=
ENST00000397368.2:c.312G>A ENSP00000380525.2:p.Val104=
ENST00000472766.1:n.155+11733G>A
NM_001234.4:c.312G>A NP_001225.1:p.Val104=
NM_033337.2:c.312G>A , LRG_329t1:c.312G>A NP_203123.1:p.Val104=
NM_001234.5:c.312G>A NP_001225.1:p.Val104=
NM_033337.3:c.312G>A MANE Select NP_203123.1:p.Val104=
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