Canonical Allele Identifier: CA208451
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 212160
ClinVar RCV Id: RCV000194339
dbSNP Id: rs797045958
gnomAD v3: 1-149926017-T-G
gnomAD v4: 1-149926017-T-G
MyVariant Identifiers: chr1:g.149897909T>G (hg19) chr1:g.149926017T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149926017T>G , CM000663.2:g.149926017T>G GRCh38
NC_000001.10:g.149897909T>G , CM000663.1:g.149897909T>G GRCh37
NC_000001.9:g.148164533T>G NCBI36
NG_032777.1:g.7236A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.732A>C MANE Select ENSP00000271628.8:p.Pro244=
ENST00000271628.8:c.732A>C ENSP00000271628.8:p.Pro244=
NM_005850.4:c.732A>C NP_005841.1:p.Pro244=
NM_005850.5:c.732A>C MANE Select NP_005841.1:p.Pro244=
Search 100 bp 5'
Search 100 bp 3'