Canonical Allele Identifier: CA432525944
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1094510
ClinVar RCV Id: RCV001415057
dbSNP Id: rs1256028341
gnomAD v2: 3-8787328-C-T
gnomAD v4: 3-8745642-C-T
MyVariant Identifiers: chr3:g.8787328C>T (hg19) chr3:g.8745642C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745642C>T , CM000665.2:g.8745642C>T GRCh38
NC_000003.11:g.8787328C>T , CM000665.1:g.8787328C>T GRCh37
NC_000003.10:g.8762328C>T NCBI36
NG_008797.2:g.16833C>T , LRG_329:g.16833C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.231C>T MANE Select ENSP00000341940.2:p.Ser77=
ENST00000343849.2:c.231C>T ENSP00000341940.2:p.Ser77=
ENST00000397368.2:c.231C>T ENSP00000380525.2:p.Ser77=
ENST00000472766.1:n.155+11652C>T
NM_001234.4:c.231C>T NP_001225.1:p.Ser77=
NM_033337.2:c.231C>T , LRG_329t1:c.231C>T NP_203123.1:p.Ser77=
NM_001234.5:c.231C>T NP_001225.1:p.Ser77=
NM_033337.3:c.231C>T MANE Select NP_203123.1:p.Ser77=
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