Canonical Allele Identifier: CA432525957
Gene: CAV3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr3:g.8787334G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745648G>A , CM000665.2:g.8745648G>A GRCh38
NC_000003.11:g.8787334G>A , CM000665.1:g.8787334G>A GRCh37
NC_000003.10:g.8762334G>A NCBI36
NG_008797.2:g.16839G>A , LRG_329:g.16839G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000343849.3:c.237G>A MANE Select ENSP00000341940.2:p.Leu79=
ENST00000343849.2:c.237G>A ENSP00000341940.2:p.Leu79=
ENST00000397368.2:c.237G>A ENSP00000380525.2:p.Leu79=
ENST00000472766.1:n.155+11658G>A
NM_001234.4:c.237G>A NP_001225.1:p.Leu79=
NM_033337.2:c.237G>A , LRG_329t1:c.237G>A NP_203123.1:p.Leu79=
NM_001234.5:c.237G>A NP_001225.1:p.Leu79=
NM_033337.3:c.237G>A MANE Select NP_203123.1:p.Leu79=