Canonical Allele Identifier: CA16611389

Gene: CAV3

Linked Data

• ClinVar Variation Id: 409254
• ClinVar RCV Id: RCV000462529 ; RCV000735136 ; RCV002496770
• dbSNP Id: rs1060502315
• gnomAD v4: 3-8745593-G-A
• MyVariant Identifiers: chr3:g.8787279G>A (hg19) ; chr3:g.8745593G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745593G>A , CM000665.2:g.8745593G>A	GRCh38
NC_000003.11:g.8787279G>A , CM000665.1:g.8787279G>A	GRCh37
NC_000003.10:g.8762279G>A	NCBI36
NG_008797.2:g.16784G>A , LRG_329:g.16784G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.182G>A MANE Select	ENSP00000341940.2:p.Ser61Asn
ENST00000343849.2:c.182G>A	ENSP00000341940.2:p.Ser61Asn
ENST00000397368.2:c.182G>A	ENSP00000380525.2:p.Ser61Asn
ENST00000472766.1:n.155+11603G>A
NM_001234.4:c.182G>A	NP_001225.1:p.Ser61Asn
NM_033337.2:c.182G>A , LRG_329t1:c.182G>A	NP_203123.1:p.Ser61Asn
NM_001234.5:c.182G>A	NP_001225.1:p.Ser61Asn
NM_033337.3:c.182G>A MANE Select	NP_203123.1:p.Ser61Asn