Canonical Allele Identifier: CA295944

Gene: CAV3

Linked Data

• ClinVar Variation Id: 180799
• ClinVar RCV Id: RCV000157839
• dbSNP Id: rs730880421
• MyVariant Identifiers: chr3:g.8787384C>G (hg19) ; chr3:g.8745698C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745698C>G , CM000665.2:g.8745698C>G	GRCh38
NC_000003.11:g.8787384C>G , CM000665.1:g.8787384C>G	GRCh37
NC_000003.10:g.8762384C>G	NCBI36
NG_008797.2:g.16889C>G , LRG_329:g.16889C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.287C>G MANE Select	ENSP00000341940.2:p.Ser96Cys
ENST00000343849.2:c.287C>G	ENSP00000341940.2:p.Ser96Cys
ENST00000397368.2:c.287C>G	ENSP00000380525.2:p.Ser96Cys
ENST00000472766.1:n.155+11708C>G
NM_001234.4:c.287C>G	NP_001225.1:p.Ser96Cys
NM_033337.2:c.287C>G , LRG_329t1:c.287C>G	NP_203123.1:p.Ser96Cys
NM_001234.5:c.287C>G	NP_001225.1:p.Ser96Cys
NM_033337.3:c.287C>G MANE Select	NP_203123.1:p.Ser96Cys