Canonical Allele Identifier: CA540847579

Gene: CAV3

Linked Data

• dbSNP Id: rs1465452862
• gnomAD v2: 3-8787581-G-A
• gnomAD v4: 3-8745895-G-A
• MyVariant Identifiers: chr3:g.8787581G>A (hg19) ; chr3:g.8745895G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745895G>A , CM000665.2:g.8745895G>A	GRCh38
NC_000003.11:g.8787581G>A , CM000665.1:g.8787581G>A	GRCh37
NC_000003.10:g.8762581G>A	NCBI36
NG_008797.2:g.17086G>A , LRG_329:g.17086G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*28G>A MANE Select	ENSP00000341940.2:n.*28G>A
ENST00000343849.2:c.*28G>A	ENSP00000341940.2:n.*28G>A
ENST00000397368.2:c.*6+22G>A	ENSP00000380525.2:n.*6+22G>A
ENST00000472766.1:n.155+11905G>A
NM_001234.4:c.*6+22G>A	NP_001225.1:n.*6+22G>A
NM_033337.2:c.*28G>A , LRG_329t1:c.*28G>A	NP_203123.1:n.*28G>A
NM_001234.5:c.*6+22G>A	NP_001225.1:n.*6+22G>A
NM_033337.3:c.*28G>A MANE Select	NP_203123.1:n.*28G>A