Canonical Allele Identifier: CA129874
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 31651
ClinVar RCV Id: RCV000024345 RCV000190680 RCV002247393
dbSNP Id: rs387907186
ExAC: 1:149895561 T / TG
gnomAD v2: 1-149895561-T-TG
gnomAD v4: 1-149923669-T-TG
COSMIC: COSM295766
MyVariant Identifiers: chr1:g.149895562dupG (hg19) chr1:g.149895562_149895563insG (hg19) chr1:g.149895561_149895562insG (hg19) chr1:g.149923670dupG (hg38) chr1:g.149923670_149923671insG (hg38) chr1:g.149923669_149923670insG (hg38)
PubMed: PMID:18000904 PMID:22541558 PMID:23568615 PMID:24003905 PMID:24715698 PMID:27642715
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149923676dup , CM000663.2:g.149923676dup GRCh38
NC_000001.10:g.149895568dup , CM000663.1:g.149895568dup GRCh37
NC_000001.9:g.148162192dup NCBI36
NG_032777.1:g.9583dup

Transcript Alleles

HGVS Amino-acid change
ENST00000271628.9:c.1147dup MANE Select ENSP00000271628.8:p.His383ProfsTer?
ENST00000271628.8:c.1147dup ENSP00000271628.8:p.His383ProfsTer?
NM_005850.4:c.1147dup NP_005841.1:p.His383ProfsTer?
NM_005850.5:c.1147dup MANE Select NP_005841.1:p.His383ProfsTer?
Search 100 bp 5'
Search 100 bp 3'