Canonical Allele Identifier: CA1071472
Gene: SF3B4 HGNC NCBI

Linked Data

ClinVar Variation Id: 292477
ClinVar RCV Id: RCV000926157
dbSNP Id: rs371485646
ExAC: 1:149897942 G / A
gnomAD v2: 1-149897942-G-A
gnomAD v3: 1-149926050-G-A
gnomAD v4: 1-149926050-G-A
MyVariant Identifiers: chr1:g.149897942G>A (hg19) chr1:g.149926050G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149926050G>A , CM000663.2:g.149926050G>A GRCh38
NC_000001.10:g.149897942G>A , CM000663.1:g.149897942G>A GRCh37
NC_000001.9:g.148164566G>A NCBI36
NG_032777.1:g.7203C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.707-8C>T MANE Select ENSP00000271628.8:n.707-8C>T
ENST00000271628.8:c.707-8C>T ENSP00000271628.8:n.707-8C>T
NM_005850.4:c.707-8C>T NP_005841.1:n.707-8C>T
NM_005850.5:c.707-8C>T MANE Select NP_005841.1:n.707-8C>T
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