Canonical Allele Identifier: CA351663365

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787342T>A (hg19) ; chr3:g.8745656T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745656T>A , CM000665.2:g.8745656T>A	GRCh38
NC_000003.11:g.8787342T>A , CM000665.1:g.8787342T>A	GRCh37
NC_000003.10:g.8762342T>A	NCBI36
NG_008797.2:g.16847T>A , LRG_329:g.16847T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.245T>A MANE Select	ENSP00000341940.2:p.Val82Asp
ENST00000343849.2:c.245T>A	ENSP00000341940.2:p.Val82Asp
ENST00000397368.2:c.245T>A	ENSP00000380525.2:p.Val82Asp
ENST00000472766.1:n.155+11666T>A
NM_001234.4:c.245T>A	NP_001225.1:p.Val82Asp
NM_033337.2:c.245T>A , LRG_329t1:c.245T>A	NP_203123.1:p.Val82Asp
NM_001234.5:c.245T>A	NP_001225.1:p.Val82Asp
NM_033337.3:c.245T>A MANE Select	NP_203123.1:p.Val82Asp