Canonical Allele Identifier: CA2236366

Gene: CAV3

Linked Data

• ClinVar Variation Id: 519474
• ClinVar RCV Id: RCV000617947 ; RCV000734249 ; RCV000769181 ; RCV001078887
• dbSNP Id: rs559206877
• ExAC: 3:8787499 G / C
• gnomAD v2: 3-8787499-G-C
• gnomAD v3: 3-8745813-G-C
• gnomAD v4: 3-8745813-G-C
• MyVariant Identifiers: chr3:g.8787499G>C (hg19) ; chr3:g.8745813G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745813G>C , CM000665.2:g.8745813G>C	GRCh38
NC_000003.11:g.8787499G>C , CM000665.1:g.8787499G>C	GRCh37
NC_000003.10:g.8762499G>C	NCBI36
NG_008797.2:g.17004G>C , LRG_329:g.17004G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.402G>C MANE Select	ENSP00000341940.2:p.Ala134=
ENST00000343849.2:c.402G>C	ENSP00000341940.2:p.Ala134=
ENST00000397368.2:c.402G>C	ENSP00000380525.2:p.Ala134=
ENST00000472766.1:n.155+11823G>C
NM_001234.4:c.402G>C	NP_001225.1:p.Ala134=
NM_033337.2:c.402G>C , LRG_329t1:c.402G>C	NP_203123.1:p.Ala134=
NM_001234.5:c.402G>C	NP_001225.1:p.Ala134=
NM_033337.3:c.402G>C MANE Select	NP_203123.1:p.Ala134=