Canonical Allele Identifier: CA432526465

Gene: CAV3

Linked Data

• MyVariant Identifiers: chr3:g.8787478C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745792C>A , CM000665.2:g.8745792C>A	GRCh38
NC_000003.11:g.8787478C>A , CM000665.1:g.8787478C>A	GRCh37
NC_000003.10:g.8762478C>A	NCBI36
NG_008797.2:g.16983C>A , LRG_329:g.16983C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000343849.3:c.381C>A MANE Select	ENSP00000341940.2:p.Thr127=
ENST00000343849.2:c.381C>A	ENSP00000341940.2:p.Thr127=
ENST00000397368.2:c.381C>A	ENSP00000380525.2:p.Thr127=
ENST00000472766.1:n.155+11802C>A
NM_001234.4:c.381C>A	NP_001225.1:p.Thr127=
NM_033337.2:c.381C>A , LRG_329t1:c.381C>A	NP_203123.1:p.Thr127=
NM_001234.5:c.381C>A	NP_001225.1:p.Thr127=
NM_033337.3:c.381C>A MANE Select	NP_203123.1:p.Thr127=