Canonical Allele Identifier: CA29992340

Gene: SF3B4

Linked Data

• dbSNP Id: rs782157134
• gnomAD v4: 1-149927975-C-T
• MyVariant Identifiers: chr1:g.149899867C>T (hg19) ; chr1:g.149927975C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927975C>T , CM000663.2:g.149927975C>T	GRCh38
NC_000001.10:g.149899867C>T , CM000663.1:g.149899867C>T	GRCh37
NC_000001.9:g.148166491C>T	NCBI36
NG_032777.1:g.5278G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.8:c.-216G>A	ENSP00000271628.8:n.-216G>A
NM_005850.4:c.-216G>A	NP_005841.1:n.-216G>A