Canonical Allele Identifier: CA351663632

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1734362
• ClinVar RCV Id: RCV002349160
• MyVariant Identifiers: chr3:g.8787469C>G (hg19) ; chr3:g.8745783C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745783C>G , CM000665.2:g.8745783C>G	GRCh38
NC_000003.11:g.8787469C>G , CM000665.1:g.8787469C>G	GRCh37
NC_000003.10:g.8762469C>G	NCBI36
NG_008797.2:g.16974C>G , LRG_329:g.16974C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.372C>G MANE Select	ENSP00000341940.2:p.Cys124Trp
ENST00000343849.2:c.372C>G	ENSP00000341940.2:p.Cys124Trp
ENST00000397368.2:c.372C>G	ENSP00000380525.2:p.Cys124Trp
ENST00000472766.1:n.155+11793C>G
NM_001234.4:c.372C>G	NP_001225.1:p.Cys124Trp
NM_033337.2:c.372C>G , LRG_329t1:c.372C>G	NP_203123.1:p.Cys124Trp
NM_001234.5:c.372C>G	NP_001225.1:p.Cys124Trp
NM_033337.3:c.372C>G MANE Select	NP_203123.1:p.Cys124Trp