Canonical Allele Identifier: CA29990895

Gene: SF3B4

Linked Data

• dbSNP Id: rs782586341
• gnomAD v2: 1-149898232-A-G
• gnomAD v3: 1-149926340-A-G
• gnomAD v4: 1-149926340-A-G
• MyVariant Identifiers: chr1:g.149898232A>G (hg19) ; chr1:g.149926340A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926340A>G , CM000663.2:g.149926340A>G	GRCh38
NC_000001.10:g.149898232A>G , CM000663.1:g.149898232A>G	GRCh37
NC_000001.9:g.148164856A>G	NCBI36
NG_032777.1:g.6913T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.706+36T>C MANE Select	ENSP00000271628.8:n.706+36T>C
ENST00000271628.8:c.706+36T>C	ENSP00000271628.8:n.706+36T>C
NM_005850.4:c.706+36T>C	NP_005841.1:n.706+36T>C
NM_005850.5:c.706+36T>C MANE Select	NP_005841.1:n.706+36T>C