Canonical Allele Identifier: CA2236345
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 346849
dbSNP Id: rs768764242
gnomAD v2: 3-8787356-C-T
gnomAD v4: 3-8745670-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745670C>T , CM000665.2:g.8745670C>T GRCh38
NC_000003.11:g.8787356C>T , CM000665.1:g.8787356C>T GRCh37
NC_000003.10:g.8762356C>T NCBI36
NG_008797.2:g.16861C>T , LRG_329:g.16861C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.259C>T MANE Select ENSP00000341940.2:p.Leu87Phe
ENST00000343849.2:c.259C>T ENSP00000341940.2:p.Leu87Phe
ENST00000397368.2:c.259C>T ENSP00000380525.2:p.Leu87Phe
ENST00000472766.1:n.155+11680C>T
NM_001234.4:c.259C>T NP_001225.1:p.Leu87Phe
NM_033337.2:c.259C>T , LRG_329t1:c.259C>T NP_203123.1:p.Leu87Phe
NM_001234.5:c.259C>T NP_001225.1:p.Leu87Phe
NM_033337.3:c.259C>T MANE Select NP_203123.1:p.Leu87Phe