Canonical Allele Identifier: CA1071456
Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs781792461
ExAC: 1:149897810 C / T
gnomAD v2: 1-149897810-C-T
gnomAD v4: 1-149925918-C-T
COSMIC: COSM895405
MyVariant Identifiers: chr1:g.149897810C>T (hg19) chr1:g.149925918C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149925918C>T , CM000663.2:g.149925918C>T GRCh38
NC_000001.10:g.149897810C>T , CM000663.1:g.149897810C>T GRCh37
NC_000001.9:g.148164434C>T NCBI36
NG_032777.1:g.7335G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.831G>A MANE Select ENSP00000271628.8:p.Ser277=
ENST00000271628.8:c.831G>A ENSP00000271628.8:p.Ser277=
NM_005850.4:c.831G>A NP_005841.1:p.Ser277=
NM_005850.5:c.831G>A MANE Select NP_005841.1:p.Ser277=
Search 100 bp 5'
Search 100 bp 3'