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: CA29992415

Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs587647523

gnomAD v2: 1-149899939-C-T

gnomAD v3: 1-149928047-C-T

gnomAD v4: 1-149928047-C-T

MyVariant Identifiers: chr1:g.149899939C>T (hg19) chr1:g.149928047C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149928047C>T , CM000663.2:g.149928047C>T	GRCh38
NC_000001.10:g.149899939C>T , CM000663.1:g.149899939C>T	GRCh37
NC_000001.9:g.148166563C>T	NCBI36
NG_032777.1:g.5206G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.8:c.-288G>A	ENSP00000271628.8:n.-288G>A
NM_005850.4:c.-288G>A	NP_005841.1:n.-288G>A

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