Canonical Allele Identifier: CA342274857

Gene: SF3B4

Linked Data

• gnomAD v4: 1-149925863-A-C
• MyVariant Identifiers: chr1:g.149897755A>C (hg19) ; chr1:g.149925863A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149925863A>C , CM000663.2:g.149925863A>C	GRCh38
NC_000001.10:g.149897755A>C , CM000663.1:g.149897755A>C	GRCh37
NC_000001.9:g.148164379A>C	NCBI36
NG_032777.1:g.7390T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.886T>G MANE Select	ENSP00000271628.8:p.Phe296Val
ENST00000271628.8:c.886T>G	ENSP00000271628.8:p.Phe296Val
NM_005850.4:c.886T>G	NP_005841.1:p.Phe296Val
NM_005850.5:c.886T>G MANE Select	NP_005841.1:p.Phe296Val