Canonical Allele Identifier: CA351663691
Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 3003036
ClinVar RCV Id: RCV003860627
dbSNP Id: rs769859957
gnomAD v2: 3-8787496-C-G
gnomAD v3: 3-8745810-C-G
gnomAD v4: 3-8745810-C-G
MyVariant Identifiers: chr3:g.8787496C>G (hg19) chr3:g.8745810C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.8745810C>G , CM000665.2:g.8745810C>G GRCh38
NC_000003.11:g.8787496C>G , CM000665.1:g.8787496C>G GRCh37
NC_000003.10:g.8762496C>G NCBI36
NG_008797.2:g.17001C>G , LRG_329:g.17001C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000343849.3:c.399C>G MANE Select ENSP00000341940.2:p.Phe133Leu
ENST00000343849.2:c.399C>G ENSP00000341940.2:p.Phe133Leu
ENST00000397368.2:c.399C>G ENSP00000380525.2:p.Phe133Leu
ENST00000472766.1:n.155+11820C>G
NM_001234.4:c.399C>G NP_001225.1:p.Phe133Leu
NM_033337.2:c.399C>G , LRG_329t1:c.399C>G NP_203123.1:p.Phe133Leu
NM_001234.5:c.399C>G NP_001225.1:p.Phe133Leu
NM_033337.3:c.399C>G MANE Select NP_203123.1:p.Phe133Leu
Search 100 bp 5'
Search 100 bp 3'