Canonical Allele Identifier: CA16604639

Gene: CAV3

Linked Data

• ClinVar Variation Id: 377627
• ClinVar RCV Id: RCV000427708 ; RCV001145928
• dbSNP Id: rs934971470
• gnomAD v2: 3-8787638-C-A
• gnomAD v3: 3-8745952-C-A
• gnomAD v4: 3-8745952-C-A
• MyVariant Identifiers: chr3:g.8787638C>A (hg19) ; chr3:g.8745952C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745952C>A , CM000665.2:g.8745952C>A	GRCh38
NC_000003.11:g.8787638C>A , CM000665.1:g.8787638C>A	GRCh37
NC_000003.10:g.8762638C>A	NCBI36
NG_008797.2:g.17143C>A , LRG_329:g.17143C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.*85C>A MANE Select	ENSP00000341940.2:n.*85C>A
ENST00000343849.2:c.*85C>A	ENSP00000341940.2:n.*85C>A
ENST00000397368.2:c.*7-18C>A	ENSP00000380525.2:n.*7-18C>A
ENST00000472766.1:n.155+11962C>A
NM_001234.4:c.*7-18C>A	NP_001225.1:n.*7-18C>A
NM_033337.2:c.*85C>A , LRG_329t1:c.*85C>A	NP_203123.1:n.*85C>A
NM_001234.5:c.*7-18C>A	NP_001225.1:n.*7-18C>A
NM_033337.3:c.*85C>A MANE Select	NP_203123.1:n.*85C>A