Canonical Allele Identifier: CA541211251
Gene: CAV3 HGNC NCBI

Linked Data

dbSNP Id: rs1182619404
gnomAD v2: 3-8787134-C-A
gnomAD v4: 3-8745448-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745448C>A , CM000665.2:g.8745448C>A GRCh38
NC_000003.11:g.8787134C>A , CM000665.1:g.8787134C>A GRCh37
NC_000003.10:g.8762134C>A NCBI36
NG_008797.2:g.16639C>A , LRG_329:g.16639C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.115-78C>A MANE Select ENSP00000341940.2:n.115-78C>A
ENST00000343849.2:c.115-78C>A ENSP00000341940.2:n.115-78C>A
ENST00000397368.2:c.115-78C>A ENSP00000380525.2:n.115-78C>A
ENST00000472766.1:n.155+11458C>A
NM_001234.4:c.115-78C>A NP_001225.1:n.115-78C>A
NM_033337.2:c.115-78C>A , LRG_329t1:c.115-78C>A NP_203123.1:n.115-78C>A
NM_001234.5:c.115-78C>A NP_001225.1:n.115-78C>A
NM_033337.3:c.115-78C>A MANE Select NP_203123.1:n.115-78C>A