Canonical Allele Identifier: CA11396519
Gene: CAV3 HGNC NCBI
dbSNP:
7632287
gnomAD v2:
3:8791446 G / A
gnomAD v3:
3:8749760 G / A
gnomAD v4:
chr3-8749760-G-A
Joint Max Group AF 0.53771811 (AFR)
Genomes Max Group AF 0.53771811 (AFR)
MyVariant.info:
GRCh38 chr3:g.8749760G>A
GRCh37 chr3:g.8791446G>A
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8749760G>A , CM000665.2:g.8749760G>A GRCh38
NC_000003.11:g.8791446G>A , CM000665.1:g.8791446G>A GRCh37
NC_000003.10:g.8766446G>A NCBI36
NG_008797.2:g.20951G>A , LRG_329:g.20951G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000472766.1:n.155+15770G>A
Search 100 bp 5'
Search 100 bp 3'