Canonical Allele Identifier: CA1071589

Gene: SF3B4

Linked Data

• ClinVar Variation Id: 3043491
• ClinVar RCV Id: RCV003924693
• dbSNP Id: rs373010695
• ExAC: 1:149899609 T / C
• gnomAD v2: 1-149899609-T-C
• gnomAD v3: 1-149927717-T-C
• gnomAD v4: 1-149927717-T-C
• MyVariant Identifiers: chr1:g.149899609T>C (hg19) ; chr1:g.149927717T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927717T>C , CM000663.2:g.149927717T>C	GRCh38
NC_000001.10:g.149899609T>C , CM000663.1:g.149899609T>C	GRCh37
NC_000001.9:g.148166233T>C	NCBI36
NG_032777.1:g.5536A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.34+9A>G MANE Select	ENSP00000271628.8:n.34+9A>G
ENST00000271628.8:c.34+9A>G	ENSP00000271628.8:n.34+9A>G
NM_005850.4:c.34+9A>G	NP_005841.1:n.34+9A>G
NM_005850.5:c.34+9A>G MANE Select	NP_005841.1:n.34+9A>G