Canonical Allele Identifier: CA911563375

Gene: CAV3

Linked Data

• dbSNP Id: rs1189713230
• gnomAD v3: 3-8745298-T-A
• gnomAD v4: 3-8745298-T-A
• MyVariant Identifiers: chr3:g.8786984T>A (hg19) ; chr3:g.8745298T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745298T>A , CM000665.2:g.8745298T>A	GRCh38
NC_000003.11:g.8786984T>A , CM000665.1:g.8786984T>A	GRCh37
NC_000003.10:g.8761984T>A	NCBI36
NG_008797.2:g.16489T>A , LRG_329:g.16489T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.115-228T>A MANE Select	ENSP00000341940.2:n.115-228T>A
ENST00000343849.2:c.115-228T>A	ENSP00000341940.2:n.115-228T>A
ENST00000397368.2:c.115-228T>A	ENSP00000380525.2:n.115-228T>A
ENST00000472766.1:n.155+11308T>A
NM_001234.4:c.115-228T>A	NP_001225.1:n.115-228T>A
NM_033337.2:c.115-228T>A , LRG_329t1:c.115-228T>A	NP_203123.1:n.115-228T>A
NM_001234.5:c.115-228T>A	NP_001225.1:n.115-228T>A
NM_033337.3:c.115-228T>A MANE Select	NP_203123.1:n.115-228T>A