Canonical Allele Identifier: CA432526108

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1797267
• ClinVar RCV Id: RCV002437892
• dbSNP Id: rs1199100373
• MyVariant Identifiers: chr3:g.8787385C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745699C>G , CM000665.2:g.8745699C>G	GRCh38
NC_000003.11:g.8787385C>G , CM000665.1:g.8787385C>G	GRCh37
NC_000003.10:g.8762385C>G	NCBI36
NG_008797.2:g.16890C>G , LRG_329:g.16890C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.288C>G MANE Select	ENSP00000341940.2:p.Ser96=
ENST00000343849.2:c.288C>G	ENSP00000341940.2:p.Ser96=
ENST00000397368.2:c.288C>G	ENSP00000380525.2:p.Ser96=
ENST00000472766.1:n.155+11709C>G
NM_001234.4:c.288C>G	NP_001225.1:p.Ser96=
NM_033337.2:c.288C>G , LRG_329t1:c.288C>G	NP_203123.1:p.Ser96=
NM_001234.5:c.288C>G	NP_001225.1:p.Ser96=
NM_033337.3:c.288C>G MANE Select	NP_203123.1:p.Ser96=