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: CA884136599

Gene: C3 HGNC NCBI

Linked Data

dbSNP Id: rs183805948

gnomAD v3: 19-6720961-C-G

gnomAD v4: 19-6720961-C-G

MyVariant Identifiers: chr19:g.6720972C>G (hg19) chr19:g.6720961C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.6720961C>G , CM000681.2:g.6720961C>G	GRCh38
NC_000019.9:g.6720972C>G , CM000681.1:g.6720972C>G	GRCh37
NC_000019.8:g.6671972C>G	NCBI36
NG_009557.1:g.4691G>C , LRG_27:g.4691G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000600744.1:c.-49-1558G>C	ENSP00000472044.1:n.-49-1558G>C

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