Canonical Allele Identifier: CA204940
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 208836
ClinVar RCV Id: RCV000190856
dbSNP Id: rs797045129
MyVariant Identifiers: chr1:g.149897845dupT (hg19) chr1:g.149897844_149897845insT (hg19) chr1:g.149925953dupT (hg38) chr1:g.149925952_149925953insT (hg38)
PubMed: PMID:22541558
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149925953dup , CM000663.2:g.149925953dup GRCh38
NC_000001.10:g.149897845dup , CM000663.1:g.149897845dup GRCh37
NC_000001.9:g.148164469dup NCBI36
NG_032777.1:g.7300dup

Transcript Alleles

HGVS Amino-acid change
ENST00000271628.9:c.796dup MANE Select ENSP00000271628.8:p.Met266AsnfsTer?
ENST00000271628.8:c.796dup ENSP00000271628.8:p.Met266AsnfsTer?
NM_005850.4:c.796dup NP_005841.1:p.Met266AsnfsTer?
NM_005850.5:c.796dup MANE Select NP_005841.1:p.Met266AsnfsTer?
Search 100 bp 5'
Search 100 bp 3'