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: CA217265422

Gene: CAVIN3 HGNC NCBI

Linked Data

dbSNP Id: rs908504540

gnomAD v3: 11-6319088-G-C

gnomAD v4: 11-6319088-G-C

MyVariant Identifiers: chr11:g.6340318G>C (hg19) chr11:g.6319088G>C (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6319088G>C , CM000673.2:g.6319088G>C	GRCh38
NC_000011.9:g.6340318G>C , CM000673.1:g.6340318G>C	GRCh37
NC_000011.8:g.6296894G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000303927.4:c.*75C>G MANE Select	ENSP00000307292.3:n.*75C>G
ENST00000303927.3:c.*75C>G	ENSP00000307292.3:n.*75C>G
ENST00000532354.1:n.883C>G
NM_145040.2:c.*75C>G	NP_659477.2:n.*75C>G
XR_930997.1:n.720+868G>C
NM_145040.3:c.*75C>G MANE Select	NP_659477.2:n.*75C>G

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