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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA342274805
Gene: SF3B4
HGNC
NCBI
Linked Data
dbSNP Id:
rs2092586636
gnomAD v3:
1-149925839-G-C
gnomAD v4:
1-149925839-G-C
MyVariant Identifiers:
chr1:g.149897731G>C (hg19)
chr1:g.149925839G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.149925839G>C , CM000663.2:g.149925839G>C
GRCh38
NC_000001.10:g.149897731G>C , CM000663.1:g.149897731G>C
GRCh37
NC_000001.9:g.148164355G>C
NCBI36
NG_032777.1:g.7414C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000271628.9:c.910C>G
MANE Select
ENSP00000271628.8:p.Pro304Ala
ENST00000271628.8:c.910C>G
ENSP00000271628.8:p.Pro304Ala
NM_005850.4:c.910C>G
NP_005841.1:p.Pro304Ala
NM_005850.5:c.910C>G
MANE Select
NP_005841.1:p.Pro304Ala
Search 100 bp 5'
Search 100 bp 3'