Canonical Allele Identifier: CA342276281
Gene: SF3B4 HGNC NCBI

Linked Data

gnomAD v4: 1-149926390-C-A
COSMIC: COSM6057949
MyVariant Identifiers: chr1:g.149898282C>A (hg19) chr1:g.149926390C>A (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.692G>T MANE Select ENSP00000271628.8:p.Gly231Val
ENST00000271628.8:c.692G>T ENSP00000271628.8:p.Gly231Val
ENST00000457312.1:c.563G>T ENSP00000391114.1:p.Gly188Val
NM_005850.4:c.692G>T NP_005841.1:p.Gly231Val
NM_005850.5:c.692G>T MANE Select NP_005841.1:p.Gly231Val
Search 100 bp 5'
Search 100 bp 3'