Canonical Allele Identifier: CA205968
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 212156
ClinVar RCV Id: RCV000192855 RCV000584815
dbSNP Id: rs797045954
MyVariant Identifiers: chr1:g.149895460_149895479del (hg19) chr1:g.149923568_149923587del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149923572_149923591del , CM000663.2:g.149923572_149923591del GRCh38
NC_000001.10:g.149895464_149895483del , CM000663.1:g.149895464_149895483del GRCh37
NC_000001.9:g.148162088_148162107del NCBI36
NG_032777.1:g.9666_9685del

Transcript Alleles

HGVS Amino-acid change
ENST00000271628.9:c.1230_1249del MANE Select ENSP00000271628.8:p.Pro411ThrfsTer?
ENST00000271628.8:c.1230_1249del ENSP00000271628.8:p.Pro411ThrfsTer?
NM_005850.4:c.1230_1249del NP_005841.1:p.Pro411ThrfsTer?
NM_005850.5:c.1230_1249del MANE Select NP_005841.1:p.Pro411ThrfsTer?
Search 100 bp 5'
Search 100 bp 3'