Canonical Allele Identifier: CA432525988

Gene: CAV3

Linked Data

• ClinVar Variation Id: 1791751
• ClinVar RCV Id: RCV002450595
• MyVariant Identifiers: chr3:g.8787343C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745657C>T , CM000665.2:g.8745657C>T	GRCh38
NC_000003.11:g.8787343C>T , CM000665.1:g.8787343C>T	GRCh37
NC_000003.10:g.8762343C>T	NCBI36
NG_008797.2:g.16848C>T , LRG_329:g.16848C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.246C>T MANE Select	ENSP00000341940.2:p.Val82=
ENST00000343849.2:c.246C>T	ENSP00000341940.2:p.Val82=
ENST00000397368.2:c.246C>T	ENSP00000380525.2:p.Val82=
ENST00000472766.1:n.155+11667C>T
NM_001234.4:c.246C>T	NP_001225.1:p.Val82=
NM_033337.2:c.246C>T , LRG_329t1:c.246C>T	NP_203123.1:p.Val82=
NM_001234.5:c.246C>T	NP_001225.1:p.Val82=
NM_033337.3:c.246C>T MANE Select	NP_203123.1:p.Val82=