Canonical Allele Identifier: CA2236360

Gene: CAV3

Linked Data

• ClinVar Variation Id: 281822
• ClinVar RCV Id: RCV000299841 ; RCV001086486 ; RCV002374453 ; RCV003401236 ; RCV003920043
• dbSNP Id: rs769859957
• ExAC: 3:8787496 C / T
• gnomAD v2: 3-8787496-C-T
• gnomAD v3: 3-8745810-C-T
• gnomAD v4: 3-8745810-C-T
• COSMIC: COSM5601193
• MyVariant Identifiers: chr3:g.8787496C>T (hg19) ; chr3:g.8745810C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745810C>T , CM000665.2:g.8745810C>T	GRCh38
NC_000003.11:g.8787496C>T , CM000665.1:g.8787496C>T	GRCh37
NC_000003.10:g.8762496C>T	NCBI36
NG_008797.2:g.17001C>T , LRG_329:g.17001C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.399C>T MANE Select	ENSP00000341940.2:p.Phe133=
ENST00000343849.2:c.399C>T	ENSP00000341940.2:p.Phe133=
ENST00000397368.2:c.399C>T	ENSP00000380525.2:p.Phe133=
ENST00000472766.1:n.155+11820C>T
NM_001234.4:c.399C>T	NP_001225.1:p.Phe133=
NM_033337.2:c.399C>T , LRG_329t1:c.399C>T	NP_203123.1:p.Phe133=
NM_001234.5:c.399C>T	NP_001225.1:p.Phe133=
NM_033337.3:c.399C>T MANE Select	NP_203123.1:p.Phe133=