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: CA1007561170

Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs1010278955

gnomAD v3: 1-149927923-G-C

gnomAD v4: 1-149927923-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927923G>C , CM000663.2:g.149927923G>C	GRCh38
NC_000001.10:g.149899815G>C , CM000663.1:g.149899815G>C	GRCh37
NC_000001.9:g.148166439G>C	NCBI36
NG_032777.1:g.5330C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.8:c.-164C>G	ENSP00000271628.8:n.-164C>G
NM_005850.4:c.-164C>G	NP_005841.1:n.-164C>G

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