Canonical Allele Identifier: CA155172

Gene: SF3B4

Linked Data

• ClinVar Variation Id: 130291
• ClinVar RCV Id: RCV000118329 ; RCV001582588
• dbSNP Id: rs115070660
• ExAC: 1:149898292 A / G
• gnomAD v2: 1-149898292-A-G
• gnomAD v3: 1-149926400-A-G
• gnomAD v4: 1-149926400-A-G
• MyVariant Identifiers: chr1:g.149898292A>G (hg19) ; chr1:g.149926400A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926400A>G , CM000663.2:g.149926400A>G	GRCh38
NC_000001.10:g.149898292A>G , CM000663.1:g.149898292A>G	GRCh37
NC_000001.9:g.148164916A>G	NCBI36
NG_032777.1:g.6853T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000271628.9:c.682T>C MANE Select	ENSP00000271628.8:p.Leu228=
ENST00000271628.8:c.682T>C	ENSP00000271628.8:p.Leu228=
ENST00000457312.1:c.553T>C	ENSP00000391114.1:p.Leu185=
NM_005850.4:c.682T>C	NP_005841.1:p.Leu228=
NM_005850.5:c.682T>C MANE Select	NP_005841.1:p.Leu228=