Canonical Allele Identifier: CA432526058
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787364C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745678C>A , CM000665.2:g.8745678C>A GRCh38
NC_000003.11:g.8787364C>A , CM000665.1:g.8787364C>A GRCh37
NC_000003.10:g.8762364C>A NCBI36
NG_008797.2:g.16869C>A , LRG_329:g.16869C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.267C>A MANE Select ENSP00000341940.2:p.Gly89=
ENST00000343849.2:c.267C>A ENSP00000341940.2:p.Gly89=
ENST00000397368.2:c.267C>A ENSP00000380525.2:p.Gly89=
ENST00000472766.1:n.155+11688C>A
NM_001234.4:c.267C>A NP_001225.1:p.Gly89=
NM_033337.2:c.267C>A , LRG_329t1:c.267C>A NP_203123.1:p.Gly89=
NM_001234.5:c.267C>A NP_001225.1:p.Gly89=
NM_033337.3:c.267C>A MANE Select NP_203123.1:p.Gly89=