Canonical Allele Identifier: CA10607633

Gene: SF3B4

Linked Data

• ClinVar Variation Id: 1242147
• ClinVar RCV Id: RCV001647997
• dbSNP Id: rs17643644
• gnomAD v2: 1-149899948-G-A
• gnomAD v3: 1-149928056-G-A
• gnomAD v4: 1-149928056-G-A
• MyVariant Identifiers: chr1:g.149899948G>A (hg19) ; chr1:g.149928056G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149928056G>A , CM000663.2:g.149928056G>A	GRCh38
NC_000001.10:g.149899948G>A , CM000663.1:g.149899948G>A	GRCh37
NC_000001.9:g.148166572G>A	NCBI36
NG_032777.1:g.5197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.8:c.-297C>T	ENSP00000271628.8:n.-297C>T
NM_005850.4:c.-297C>T	NP_005841.1:n.-297C>T