Canonical Allele Identifier: CA2236334

Gene: CAV3

Linked Data

• dbSNP Id: rs753990961
• ExAC: 3:8787282 A / G
• gnomAD v2: 3-8787282-A-G
• gnomAD v4: 3-8745596-A-G
• MyVariant Identifiers: chr3:g.8787282A>G (hg19) ; chr3:g.8745596A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745596A>G , CM000665.2:g.8745596A>G	GRCh38
NC_000003.11:g.8787282A>G , CM000665.1:g.8787282A>G	GRCh37
NC_000003.10:g.8762282A>G	NCBI36
NG_008797.2:g.16787A>G , LRG_329:g.16787A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.185A>G MANE Select	ENSP00000341940.2:p.Tyr62Cys
ENST00000343849.2:c.185A>G	ENSP00000341940.2:p.Tyr62Cys
ENST00000397368.2:c.185A>G	ENSP00000380525.2:p.Tyr62Cys
ENST00000472766.1:n.155+11606A>G
NM_001234.4:c.185A>G	NP_001225.1:p.Tyr62Cys
NM_033337.2:c.185A>G , LRG_329t1:c.185A>G	NP_203123.1:p.Tyr62Cys
NM_001234.5:c.185A>G	NP_001225.1:p.Tyr62Cys
NM_033337.3:c.185A>G MANE Select	NP_203123.1:p.Tyr62Cys