Canonical Allele Identifier: CA1071594
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 732633
ClinVar RCV Id: RCV000907813
dbSNP Id: rs150625746
ExAC: 1:149899643 G / C
gnomAD v2: 1-149899643-G-C
gnomAD v3: 1-149927751-G-C
gnomAD v4: 1-149927751-G-C
MyVariant Identifiers: chr1:g.149899643G>C (hg19) chr1:g.149927751G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149927751G>C , CM000663.2:g.149927751G>C GRCh38
NC_000001.10:g.149899643G>C , CM000663.1:g.149899643G>C GRCh37
NC_000001.9:g.148166267G>C NCBI36
NG_032777.1:g.5502C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.9C>G MANE Select ENSP00000271628.8:p.Ala3=
ENST00000271628.8:c.9C>G ENSP00000271628.8:p.Ala3=
NM_005850.4:c.9C>G NP_005841.1:p.Ala3=
NM_005850.5:c.9C>G MANE Select NP_005841.1:p.Ala3=
Search 100 bp 5'
Search 100 bp 3'