Canonical Allele Identifier: CA1071485
Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs782504486
ExAC: 1:149898238 A / C
gnomAD v2: 1-149898238-A-C
gnomAD v3: 1-149926346-A-C
gnomAD v4: 1-149926346-A-C
MyVariant Identifiers: chr1:g.149898238A>C (hg19) chr1:g.149926346A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149926346A>C , CM000663.2:g.149926346A>C GRCh38
NC_000001.10:g.149898238A>C , CM000663.1:g.149898238A>C GRCh37
NC_000001.9:g.148164862A>C NCBI36
NG_032777.1:g.6907T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.706+30T>G MANE Select ENSP00000271628.8:n.706+30T>G
ENST00000271628.8:c.706+30T>G ENSP00000271628.8:n.706+30T>G
NM_005850.4:c.706+30T>G NP_005841.1:n.706+30T>G
NM_005850.5:c.706+30T>G MANE Select NP_005841.1:n.706+30T>G
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