Canonical Allele Identifier: CA69870827

Gene: CAV3

Linked Data

• dbSNP Id: rs912737853
• gnomAD v4: 3-8745891-G-A
• MyVariant Identifiers: chr3:g.8787577G>A (hg19) ; chr3:g.8745891G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745891G>A , CM000665.2:g.8745891G>A	GRCh38
NC_000003.11:g.8787577G>A , CM000665.1:g.8787577G>A	GRCh37
NC_000003.10:g.8762577G>A	NCBI36
NG_008797.2:g.17082G>A , LRG_329:g.17082G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.*24G>A MANE Select	ENSP00000341940.2:n.*24G>A
ENST00000343849.2:c.*24G>A	ENSP00000341940.2:n.*24G>A
ENST00000397368.2:c.*6+18G>A	ENSP00000380525.2:n.*6+18G>A
ENST00000472766.1:n.155+11901G>A
NM_001234.4:c.*6+18G>A	NP_001225.1:n.*6+18G>A
NM_033337.2:c.*24G>A , LRG_329t1:c.*24G>A	NP_203123.1:n.*24G>A
NM_001234.5:c.*6+18G>A	NP_001225.1:n.*6+18G>A
NM_033337.3:c.*24G>A MANE Select	NP_203123.1:n.*24G>A