Canonical Allele Identifier: CA29991988

Gene: SF3B4

Linked Data

• dbSNP Id: rs769863250
• gnomAD v2: 1-149899667-G-A
• gnomAD v4: 1-149927775-G-A
• MyVariant Identifiers: chr1:g.149899667G>A (hg19) ; chr1:g.149927775G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927775G>A , CM000663.2:g.149927775G>A	GRCh38
NC_000001.10:g.149899667G>A , CM000663.1:g.149899667G>A	GRCh37
NC_000001.9:g.148166291G>A	NCBI36
NG_032777.1:g.5478C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.-16C>T MANE Select	ENSP00000271628.8:n.-16C>T
ENST00000271628.8:c.-16C>T	ENSP00000271628.8:n.-16C>T
NM_005850.4:c.-16C>T	NP_005841.1:n.-16C>T
NM_005850.5:c.-16C>T MANE Select	NP_005841.1:n.-16C>T