Canonical Allele Identifier: CA432526059
Gene: CAV3 HGNC NCBI

Linked Data

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

Genomic Alleles

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

Transcript Alleles

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