Canonical Allele Identifier: CA1071609
Gene: SF3B4 HGNC NCBI

Linked Data

dbSNP Id: rs782501376
ExAC: 1:149899691 C / G
gnomAD v2: 1-149899691-C-G
gnomAD v3: 1-149927799-C-G
gnomAD v4: 1-149927799-C-G
MyVariant Identifiers: chr1:g.149899691C>G (hg19) chr1:g.149927799C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.149927799C>G , CM000663.2:g.149927799C>G GRCh38
NC_000001.10:g.149899691C>G , CM000663.1:g.149899691C>G GRCh37
NC_000001.9:g.148166315C>G NCBI36
NG_032777.1:g.5454G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000271628.9:c.-40G>C MANE Select ENSP00000271628.8:n.-40G>C
ENST00000271628.8:c.-40G>C ENSP00000271628.8:n.-40G>C
NM_005850.4:c.-40G>C NP_005841.1:n.-40G>C
NM_005850.5:c.-40G>C MANE Select NP_005841.1:n.-40G>C
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