Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA351663379

Gene: CAV3 HGNC NCBI

Linked Data

ClinVar Variation Id: 526984

ClinVar RCV Id: RCV000631668

dbSNP Id: rs1553614440

MyVariant Identifiers: chr3:g.8787351C>A (hg19) chr3:g.8745665C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.8745665C>A , CM000665.2:g.8745665C>A	GRCh38
NC_000003.11:g.8787351C>A , CM000665.1:g.8787351C>A	GRCh37
NC_000003.10:g.8762351C>A	NCBI36
NG_008797.2:g.16856C>A , LRG_329:g.16856C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000343849.3:c.254C>A MANE Select	ENSP00000341940.2:p.Ala85Asp
ENST00000343849.2:c.254C>A	ENSP00000341940.2:p.Ala85Asp
ENST00000397368.2:c.254C>A	ENSP00000380525.2:p.Ala85Asp
ENST00000472766.1:n.155+11675C>A
NM_001234.4:c.254C>A	NP_001225.1:p.Ala85Asp
NM_033337.2:c.254C>A , LRG_329t1:c.254C>A	NP_203123.1:p.Ala85Asp
NM_001234.5:c.254C>A	NP_001225.1:p.Ala85Asp
NM_033337.3:c.254C>A MANE Select	NP_203123.1:p.Ala85Asp