Canonical Allele Identifier: CA129872
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 31650
ClinVar RCV Id: RCV000024344 RCV002513226
dbSNP Id: rs387907185
gnomAD v4: 1-149927759-T-C
MyVariant Identifiers: chr1:g.149899651T>C (hg19) chr1:g.149927759T>C (hg38)
PubMed: PMID:22541558
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149927759T>C , CM000663.2:g.149927759T>C GRCh38
NC_000001.10:g.149899651T>C , CM000663.1:g.149899651T>C GRCh37
NC_000001.9:g.148166275T>C NCBI36
NG_032777.1:g.5494A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.1A>G MANE Select ENSP00000271628.8:p.Met1Val
ENST00000271628.8:c.1A>G ENSP00000271628.8:p.Met1Val
NM_005850.4:c.1A>G NP_005841.1:p.Met1Val
NM_005850.5:c.1A>G MANE Select NP_005841.1:p.Met1Val
Search 100 bp 5'
Search 100 bp 3'