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: CA29992398

Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs781860856

gnomAD v3: 1-149928035-A-G

gnomAD v4: 1-149928035-A-G

MyVariant Identifiers: chr1:g.149899927A>G (hg19) chr1:g.149928035A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149928035A>G , CM000663.2:g.149928035A>G	GRCh38
NC_000001.10:g.149899927A>G , CM000663.1:g.149899927A>G	GRCh37
NC_000001.9:g.148166551A>G	NCBI36
NG_032777.1:g.5218T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.8:c.-276T>C	ENSP00000271628.8:n.-276T>C
NM_005850.4:c.-276T>C	NP_005841.1:n.-276T>C

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