Canonical Allele Identifier: CA351663358
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 995330
ClinVar RCV Id: RCV001289358
dbSNP Id: rs1708134992
gnomAD v4: 3-8745652-G-A
MyVariant Identifiers: chr3:g.8787338G>A (hg19) chr3:g.8745652G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745652G>A , CM000665.2:g.8745652G>A GRCh38
NC_000003.11:g.8787338G>A , CM000665.1:g.8787338G>A GRCh37
NC_000003.10:g.8762338G>A NCBI36
NG_008797.2:g.16843G>A , LRG_329:g.16843G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.241G>A MANE Select ENSP00000341940.2:p.Gly81Ser
ENST00000343849.2:c.241G>A ENSP00000341940.2:p.Gly81Ser
ENST00000397368.2:c.241G>A ENSP00000380525.2:p.Gly81Ser
ENST00000472766.1:n.155+11662G>A
NM_001234.4:c.241G>A NP_001225.1:p.Gly81Ser
NM_033337.2:c.241G>A , LRG_329t1:c.241G>A NP_203123.1:p.Gly81Ser
NM_001234.5:c.241G>A NP_001225.1:p.Gly81Ser
NM_033337.3:c.241G>A MANE Select NP_203123.1:p.Gly81Ser
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