Canonical Allele Identifier: CA432525560
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs753959620
gnomAD v4: 3-8745528-G-A
MyVariant Identifiers: chr3:g.8787214G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745528G>A , CM000665.2:g.8745528G>A GRCh38
NC_000003.11:g.8787214G>A , CM000665.1:g.8787214G>A GRCh37
NC_000003.10:g.8762214G>A NCBI36
NG_008797.2:g.16719G>A , LRG_329:g.16719G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.117G>A MANE Select ENSP00000341940.2:p.Val39=
ENST00000343849.2:c.117G>A ENSP00000341940.2:p.Val39=
ENST00000397368.2:c.117G>A ENSP00000380525.2:p.Val39=
ENST00000472766.1:n.155+11538G>A
NM_001234.4:c.117G>A NP_001225.1:p.Val39=
NM_033337.2:c.117G>A , LRG_329t1:c.117G>A NP_203123.1:p.Val39=
NM_001234.5:c.117G>A NP_001225.1:p.Val39=
NM_033337.3:c.117G>A MANE Select NP_203123.1:p.Val39=