Canonical Allele Identifier: CA342276282
Gene: SF3B4 HGNC NCBI

Linked Data

gnomAD v4: 1-149926390-C-G
MyVariant Identifiers: chr1:g.149898282C>G (hg19) chr1:g.149926390C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149926390C>G , CM000663.2:g.149926390C>G GRCh38
NC_000001.10:g.149898282C>G , CM000663.1:g.149898282C>G GRCh37
NC_000001.9:g.148164906C>G NCBI36
NG_032777.1:g.6863G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.692G>C MANE Select ENSP00000271628.8:p.Gly231Ala
ENST00000271628.8:c.692G>C ENSP00000271628.8:p.Gly231Ala
ENST00000457312.1:c.563G>C ENSP00000391114.1:p.Gly188Ala
NM_005850.4:c.692G>C NP_005841.1:p.Gly231Ala
NM_005850.5:c.692G>C MANE Select NP_005841.1:p.Gly231Ala
Search 100 bp 5'
Search 100 bp 3'