Canonical Allele Identifier: CA351663374

Gene: CAV3

Linked Data

• ClinVar Variation Id: 2198421
• ClinVar RCV Id: RCV002640418
• dbSNP Id: rs1467085320
• gnomAD v2: 3-8787347-C-G
• gnomAD v3: 3-8745661-C-G
• gnomAD v4: 3-8745661-C-G
• COSMIC: COSM308364
• MyVariant Identifiers: chr3:g.8787347C>G (hg19) ; chr3:g.8745661C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745661C>G , CM000665.2:g.8745661C>G	GRCh38
NC_000003.11:g.8787347C>G , CM000665.1:g.8787347C>G	GRCh37
NC_000003.10:g.8762347C>G	NCBI36
NG_008797.2:g.16852C>G , LRG_329:g.16852C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.250C>G MANE Select	ENSP00000341940.2:p.Leu84Val
ENST00000343849.2:c.250C>G	ENSP00000341940.2:p.Leu84Val
ENST00000397368.2:c.250C>G	ENSP00000380525.2:p.Leu84Val
ENST00000472766.1:n.155+11671C>G
NM_001234.4:c.250C>G	NP_001225.1:p.Leu84Val
NM_033337.2:c.250C>G , LRG_329t1:c.250C>G	NP_203123.1:p.Leu84Val
NM_001234.5:c.250C>G	NP_001225.1:p.Leu84Val
NM_033337.3:c.250C>G MANE Select	NP_203123.1:p.Leu84Val