Canonical Allele Identifier: CA526029917

Gene: SF3B4

Linked Data

• dbSNP Id: rs1479134178
• gnomAD v2: 1-149899574-C-T
• gnomAD v3: 1-149927682-C-T
• gnomAD v4: 1-149927682-C-T
• MyVariant Identifiers: chr1:g.149899574C>T (hg19) ; chr1:g.149927682C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927682C>T , CM000663.2:g.149927682C>T	GRCh38
NC_000001.10:g.149899574C>T , CM000663.1:g.149899574C>T	GRCh37
NC_000001.9:g.148166198C>T	NCBI36
NG_032777.1:g.5571G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.34+44G>A MANE Select	ENSP00000271628.8:n.34+44G>A
ENST00000271628.8:c.34+44G>A	ENSP00000271628.8:n.34+44G>A
NM_005850.4:c.34+44G>A	NP_005841.1:n.34+44G>A
NM_005850.5:c.34+44G>A MANE Select	NP_005841.1:n.34+44G>A