Canonical Allele Identifier: CA342276279

Gene: SF3B4

Linked Data

• MyVariant Identifiers: chr1:g.149898280G>T (hg19) ; chr1:g.149926388G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926388G>T , CM000663.2:g.149926388G>T	GRCh38
NC_000001.10:g.149898280G>T , CM000663.1:g.149898280G>T	GRCh37
NC_000001.9:g.148164904G>T	NCBI36
NG_032777.1:g.6865C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.694C>A MANE Select	ENSP00000271628.8:p.Leu232Ile
ENST00000271628.8:c.694C>A	ENSP00000271628.8:p.Leu232Ile
ENST00000457312.1:c.565C>A	ENSP00000391114.1:p.Leu189Ile
NM_005850.4:c.694C>A	NP_005841.1:p.Leu232Ile
NM_005850.5:c.694C>A MANE Select	NP_005841.1:p.Leu232Ile