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: CA171486517

Gene: DEFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1007471115

gnomAD v3: 8-6877975-G-C

gnomAD v4: 8-6877975-G-C

MyVariant Identifiers: chr8:g.6735497G>C (hg19) chr8:g.6877975G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.6877975G>C , CM000670.2:g.6877975G>C	GRCh38
NC_000008.10:g.6735497G>C , CM000670.1:g.6735497G>C	GRCh37
NC_000008.9:g.6722907G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000297439.3:c.-118C>G	ENSP00000297439.3:n.-118C>G
NM_005218.3:c.-118C>G	NP_005209.1:n.-118C>G

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