Canonical Allele Identifier: CA526029918

Gene: SF3B4

Linked Data

• dbSNP Id: rs1553766248
• gnomAD v2: 1-149899580-C-A
• gnomAD v4: 1-149927688-C-A
• MyVariant Identifiers: chr1:g.149899580C>A (hg19) ; chr1:g.149927688C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927688C>A , CM000663.2:g.149927688C>A	GRCh38
NC_000001.10:g.149899580C>A , CM000663.1:g.149899580C>A	GRCh37
NC_000001.9:g.148166204C>A	NCBI36
NG_032777.1:g.5565G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.34+38G>T MANE Select	ENSP00000271628.8:n.34+38G>T
ENST00000271628.8:c.34+38G>T	ENSP00000271628.8:n.34+38G>T
NM_005850.4:c.34+38G>T	NP_005841.1:n.34+38G>T
NM_005850.5:c.34+38G>T MANE Select	NP_005841.1:n.34+38G>T