Canonical Allele Identifier: CA144771

Gene: SF3B4

Linked Data

• ClinVar Variation Id: 65407
• ClinVar RCV Id: RCV000055627 ; RCV001211780
• dbSNP Id: rs397515324
• MyVariant Identifiers: chr1:g.149895814G>A (hg19) ; chr1:g.149923922G>A (hg38)
• PubMed: PMID:22541558 ; PMID:23568615

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149923922G>A , CM000663.2:g.149923922G>A	GRCh38
NC_000001.10:g.149895814G>A , CM000663.1:g.149895814G>A	GRCh37
NC_000001.9:g.148162438G>A	NCBI36
NG_032777.1:g.9331C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.1006C>T MANE Select	ENSP00000271628.8:p.Arg336Ter
ENST00000271628.8:c.1006C>T	ENSP00000271628.8:p.Arg336Ter
NM_005850.4:c.1006C>T	NP_005841.1:p.Arg336Ter
NM_005850.5:c.1006C>T MANE Select	NP_005841.1:p.Arg336Ter