Canonical Allele Identifier: CA1071592
Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs782616606
ExAC: 1:149899625 C / T
gnomAD v2: 1-149899625-C-T
gnomAD v3: 1-149927733-C-T
gnomAD v4: 1-149927733-C-T
MyVariant Identifiers: chr1:g.149899625C>T (hg19) chr1:g.149927733C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149927733C>T , CM000663.2:g.149927733C>T GRCh38
NC_000001.10:g.149899625C>T , CM000663.1:g.149899625C>T GRCh37
NC_000001.9:g.148166249C>T NCBI36
NG_032777.1:g.5520G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.27G>A MANE Select ENSP00000271628.8:p.Arg9=
ENST00000271628.8:c.27G>A ENSP00000271628.8:p.Arg9=
NM_005850.4:c.27G>A NP_005841.1:p.Arg9=
NM_005850.5:c.27G>A MANE Select NP_005841.1:p.Arg9=
Search 100 bp 5'
Search 100 bp 3'