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: CA729698912

Gene: CFHR4 HGNC NCBI

Linked Data

dbSNP Id: rs10801575

MyVariant Identifiers: chr1:g.196852781T>A (hg19) chr1:g.196883651T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.196883651T>A , CM000663.2:g.196883651T>A	GRCh38
NC_000001.10:g.196852781T>A , CM000663.1:g.196852781T>A	GRCh37
NC_000001.9:g.195119404T>A	NCBI36
NG_028159.1:g.638T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000649395.1:n.427-955T>A
ENST00000367421.4:c.58+63749T>A	ENSP00000356391.3:n.58+63749T>A
ENST00000608469.5:c.43+25243T>A	ENSP00000477162.1:n.43+25243T>A

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