Canonical Allele Identifier: CA119437

Gene: CAV3

Linked Data

• ClinVar Variation Id: 8284
• ClinVar RCV Id: RCV000008779 ; RCV000024387 ; RCV000458893 ; RCV001787372 ; RCV003352748
• dbSNP Id: rs28936685
• ExAC: 3:8787357 T / C
• gnomAD v2: 3-8787357-T-C
• gnomAD v3: 3-8745671-T-C
• gnomAD v4: 3-8745671-T-C
• MyVariant Identifiers: chr3:g.8787357T>C (hg19) ; chr3:g.8745671T>C (hg38)
• PubMed: PMID:12666119 ; PMID:15580566

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745671T>C , CM000665.2:g.8745671T>C	GRCh38
NC_000003.11:g.8787357T>C , CM000665.1:g.8787357T>C	GRCh37
NC_000003.10:g.8762357T>C	NCBI36
NG_008797.2:g.16862T>C , LRG_329:g.16862T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.260T>C MANE Select	ENSP00000341940.2:p.Leu87Pro
ENST00000343849.2:c.260T>C	ENSP00000341940.2:p.Leu87Pro
ENST00000397368.2:c.260T>C	ENSP00000380525.2:p.Leu87Pro
ENST00000472766.1:n.155+11681T>C
NM_001234.4:c.260T>C	NP_001225.1:p.Leu87Pro
NM_033337.2:c.260T>C , LRG_329t1:c.260T>C	NP_203123.1:p.Leu87Pro
NM_001234.5:c.260T>C	NP_001225.1:p.Leu87Pro
NM_033337.3:c.260T>C MANE Select	NP_203123.1:p.Leu87Pro