Canonical Allele Identifier: CA342274894
Gene: SF3B4 HGNC NCBI

Linked Data

gnomAD v4: 1-149925879-G-C
MyVariant Identifiers: chr1:g.149897771G>C (hg19) chr1:g.149925879G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149925879G>C , CM000663.2:g.149925879G>C GRCh38
NC_000001.10:g.149897771G>C , CM000663.1:g.149897771G>C GRCh37
NC_000001.9:g.148164395G>C NCBI36
NG_032777.1:g.7374C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.870C>G MANE Select ENSP00000271628.8:p.His290Gln
ENST00000271628.8:c.870C>G ENSP00000271628.8:p.His290Gln
NM_005850.4:c.870C>G NP_005841.1:p.His290Gln
NM_005850.5:c.870C>G MANE Select NP_005841.1:p.His290Gln
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