Canonical Allele Identifier: CA645525965

Gene: SF3B4

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)

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?