Canonical Allele Identifier: CA29992335

Gene: SF3B4

Linked Data

• dbSNP Id: rs587696137
• gnomAD v2: 1-149899863-T-C
• gnomAD v3: 1-149927971-T-C
• gnomAD v4: 1-149927971-T-C
• MyVariant Identifiers: chr1:g.149899863T>C (hg19) ; chr1:g.149927971T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927971T>C , CM000663.2:g.149927971T>C	GRCh38
NC_000001.10:g.149899863T>C , CM000663.1:g.149899863T>C	GRCh37
NC_000001.9:g.148166487T>C	NCBI36
NG_032777.1:g.5282A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.8:c.-212A>G	ENSP00000271628.8:n.-212A>G
NM_005850.4:c.-212A>G	NP_005841.1:n.-212A>G