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.

Canonical Allele Identifier: CA597438118

Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs1170679454

gnomAD v2: 11-6340342-A-G

gnomAD v4: 11-6319112-A-G

MyVariant Identifiers: chr11:g.6340342A>G (hg19) chr11:g.6319112A>G (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319112A>G , CM000673.2:g.6319112A>G	GRCh38
NC_000011.9:g.6340342A>G , CM000673.1:g.6340342A>G	GRCh37
NC_000011.8:g.6296918A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000303927.4:c.*51T>C MANE Select	ENSP00000307292.3:n.*51T>C
ENST00000303927.3:c.*51T>C	ENSP00000307292.3:n.*51T>C
ENST00000532354.1:n.859T>C
NM_145040.2:c.*51T>C	NP_659477.2:n.*51T>C
XR_930997.1:n.720+892A>G
NM_145040.3:c.*51T>C MANE Select	NP_659477.2:n.*51T>C

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