Canonical Allele Identifier: CA645525965
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 446295
ClinVar RCV Id: RCV000515537 RCV000519949
dbSNP Id: rs797045128
gnomAD v4: 1-149925921-TG-T
COSMIC: COSM5497567
MyVariant Identifiers: chr1:g.149897814del (hg19) chr1:g.149925922del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149925927del , CM000663.2:g.149925927del GRCh38
NC_000001.10:g.149897819del , CM000663.1:g.149897819del GRCh37
NC_000001.9:g.148164443del NCBI36
NG_032777.1:g.7331del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.827del MANE Select ENSP00000271628.8:p.Pro276HisfsTer?
ENST00000271628.8:c.827del ENSP00000271628.8:p.Pro276HisfsTer?
NM_005850.4:c.827del NP_005841.1:p.Pro276HisfsTer?
NM_005850.5:c.827del MANE Select NP_005841.1:p.Pro276HisfsTer?
Search 100 bp 5'
Search 100 bp 3'