Canonical Allele Identifier: CA29990405
Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs377248759
gnomAD v2: 1-149897684-C-T
gnomAD v3: 1-149925792-C-T
gnomAD v4: 1-149925792-C-T
MyVariant Identifiers: chr1:g.149897684C>T (hg19) chr1:g.149925792C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149925792C>T , CM000663.2:g.149925792C>T GRCh38
NC_000001.10:g.149897684C>T , CM000663.1:g.149897684C>T GRCh37
NC_000001.9:g.148164308C>T NCBI36
NG_032777.1:g.7461G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.913+44G>A MANE Select ENSP00000271628.8:n.913+44G>A
ENST00000271628.8:c.913+44G>A ENSP00000271628.8:n.913+44G>A
NM_005850.4:c.913+44G>A NP_005841.1:n.913+44G>A
NM_005850.5:c.913+44G>A MANE Select NP_005841.1:n.913+44G>A
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