Canonical Allele Identifier: CA350192424
Gene: SF3B1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.197400845T>C , CM000664.2:g.197400845T>C GRCh38
NC_000002.11:g.198265569T>C , CM000664.1:g.198265569T>C GRCh37
NC_000002.10:g.197973814T>C NCBI36
NG_032903.2:g.39203A>G , LRG_624:g.39203A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000335508.11:c.2588A>G MANE Select ENSP00000335321.6:p.Gln863Arg
ENST00000470268.2:n.4472A>G
ENST00000652026.1:c.*3655A>G ENSP00000498652.1:n.*3655A>G
ENST00000652738.1:c.*2847A>G ENSP00000499119.1:n.*2847A>G
ENST00000335508.10:c.2588A>G ENSP00000335321.5:p.Gln863Arg
NM_012433.2:c.2588A>G NP_036565.2:p.Gln863Arg
NM_012433.3:c.2588A>G , LRG_624t2:c.2588A>G NP_036565.2:p.Gln863Arg
XM_011510867.1:c.2150A>G XP_011509169.1:p.Gln717Arg
XM_011510868.1:c.2150A>G XP_011509170.1:p.Gln717Arg
XR_241300.2:n.2680A>G
XR_001738680.2:n.2633A>G
NM_012433.4:c.2588A>G MANE Select NP_036565.2:p.Gln863Arg
Search 100 bp 5'
Search 100 bp 3'