Canonical Allele Identifier: CA29992425

Gene: SF3B4

Linked Data

• dbSNP Id: rs904569956
• gnomAD v2: 1-149899945-A-G
• gnomAD v3: 1-149928053-A-G
• gnomAD v4: 1-149928053-A-G
• MyVariant Identifiers: chr1:g.149899945A>G (hg19) ; chr1:g.149928053A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149928053A>G , CM000663.2:g.149928053A>G	GRCh38
NC_000001.10:g.149899945A>G , CM000663.1:g.149899945A>G	GRCh37
NC_000001.9:g.148166569A>G	NCBI36
NG_032777.1:g.5200T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.8:c.-294T>C	ENSP00000271628.8:n.-294T>C
NM_005850.4:c.-294T>C	NP_005841.1:n.-294T>C