Canonical Allele Identifier: CA119440
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 8285
ClinVar RCV Id: RCV000008780 RCV000024388 RCV000234612 RCV000622234 RCV000826098
dbSNP Id: rs28936686
ExAC: 3:8787374 G / A
gnomAD v2: 3-8787374-G-A
gnomAD v3: 3-8745688-G-A
gnomAD v4: 3-8745688-G-A
COSMIC: COSM2828095
MyVariant Identifiers: chr3:g.8787374G>A (hg19) chr3:g.8745688G>A (hg38)
PubMed: PMID:12666119 PMID:15580566 PMID:15668980 PMID:19697367 PMID:25351510 PMID:27184587
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745688G>A , CM000665.2:g.8745688G>A GRCh38
NC_000003.11:g.8787374G>A , CM000665.1:g.8787374G>A GRCh37
NC_000003.10:g.8762374G>A NCBI36
NG_008797.2:g.16879G>A , LRG_329:g.16879G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.277G>A MANE Select ENSP00000341940.2:p.Ala93Thr
ENST00000343849.2:c.277G>A ENSP00000341940.2:p.Ala93Thr
ENST00000397368.2:c.277G>A ENSP00000380525.2:p.Ala93Thr
ENST00000472766.1:n.155+11698G>A
NM_001234.4:c.277G>A NP_001225.1:p.Ala93Thr
NM_033337.2:c.277G>A , LRG_329t1:c.277G>A NP_203123.1:p.Ala93Thr
NM_001234.5:c.277G>A NP_001225.1:p.Ala93Thr
NM_033337.3:c.277G>A MANE Select NP_203123.1:p.Ala93Thr
Search 100 bp 5'
Search 100 bp 3'