Canonical Allele Identifier: CA342279619

Gene: SF3B4

Linked Data

• gnomAD v4: 1-149927729-G-T
• MyVariant Identifiers: chr1:g.149899621G>T (hg19) ; chr1:g.149927729G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149927729G>T , CM000663.2:g.149927729G>T	GRCh38
NC_000001.10:g.149899621G>T , CM000663.1:g.149899621G>T	GRCh37
NC_000001.9:g.148166245G>T	NCBI36
NG_032777.1:g.5524C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.31C>A MANE Select	ENSP00000271628.8:p.Gln11Lys
ENST00000271628.8:c.31C>A	ENSP00000271628.8:p.Gln11Lys
NM_005850.4:c.31C>A	NP_005841.1:p.Gln11Lys
NM_005850.5:c.31C>A MANE Select	NP_005841.1:p.Gln11Lys