Canonical Allele Identifier: CA1071467

Gene: SF3B4

Linked Data

• ClinVar Variation Id: 292476
• ClinVar RCV Id: RCV000958474 ; RCV002494907
• dbSNP Id: rs113949235
• ExAC: 1:149897906 G / A
• gnomAD v2: 1-149897906-G-A
• gnomAD v3: 1-149926014-G-A
• gnomAD v4: 1-149926014-G-A
• MyVariant Identifiers: chr1:g.149897906G>A (hg19) ; chr1:g.149926014G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926014G>A , CM000663.2:g.149926014G>A	GRCh38
NC_000001.10:g.149897906G>A , CM000663.1:g.149897906G>A	GRCh37
NC_000001.9:g.148164530G>A	NCBI36
NG_032777.1:g.7239C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.735C>T MANE Select	ENSP00000271628.8:p.Pro245=
ENST00000271628.8:c.735C>T	ENSP00000271628.8:p.Pro245=
NM_005850.4:c.735C>T	NP_005841.1:p.Pro245=
NM_005850.5:c.735C>T MANE Select	NP_005841.1:p.Pro245=