Canonical Allele Identifier: CA342276299

Gene: SF3B4

Linked Data

• MyVariant Identifiers: chr1:g.149898290C>G (hg19) ; chr1:g.149926398C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926398C>G , CM000663.2:g.149926398C>G	GRCh38
NC_000001.10:g.149898290C>G , CM000663.1:g.149898290C>G	GRCh37
NC_000001.9:g.148164914C>G	NCBI36
NG_032777.1:g.6855G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.684G>C MANE Select	ENSP00000271628.8:p.Leu228Phe
ENST00000271628.8:c.684G>C	ENSP00000271628.8:p.Leu228Phe
ENST00000457312.1:c.555G>C	ENSP00000391114.1:p.Leu185Phe
NM_005850.4:c.684G>C	NP_005841.1:p.Leu228Phe
NM_005850.5:c.684G>C MANE Select	NP_005841.1:p.Leu228Phe