Canonical Allele Identifier: CA342276297

Gene: SF3B4

Linked Data

• MyVariant Identifiers: chr1:g.149898289C>T (hg19) ; chr1:g.149926397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.149926397C>T , CM000663.2:g.149926397C>T	GRCh38
NC_000001.10:g.149898289C>T , CM000663.1:g.149898289C>T	GRCh37
NC_000001.9:g.148164913C>T	NCBI36
NG_032777.1:g.6856G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271628.9:c.685G>A MANE Select	ENSP00000271628.8:p.Gly229Arg
ENST00000271628.8:c.685G>A	ENSP00000271628.8:p.Gly229Arg
ENST00000457312.1:c.556G>A	ENSP00000391114.1:p.Gly186Arg
NM_005850.4:c.685G>A	NP_005841.1:p.Gly229Arg
NM_005850.5:c.685G>A MANE Select	NP_005841.1:p.Gly229Arg