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: CA29992408

Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs587755247

gnomAD v3: 1-149928042-C-A

gnomAD v4: 1-149928042-C-A

MyVariant Identifiers: chr1:g.149899934C>A (hg19) chr1:g.149928042C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149928042C>A , CM000663.2:g.149928042C>A	GRCh38
NC_000001.10:g.149899934C>A , CM000663.1:g.149899934C>A	GRCh37
NC_000001.9:g.148166558C>A	NCBI36
NG_032777.1:g.5211G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.8:c.-283G>T	ENSP00000271628.8:n.-283G>T
NM_005850.4:c.-283G>T	NP_005841.1:n.-283G>T

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