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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:
CA382018229
Gene: FZD4
HGNC
NCBI
Linked Data
gnomAD v4:
11-86954853-T-C
MyVariant Identifiers:
chr11:g.86665895T>C (hg19)
chr11:g.86954853T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.86954853T>C , CM000673.2:g.86954853T>C
GRCh38
NC_000011.9:g.86665895T>C , CM000673.1:g.86665895T>C
GRCh37
NC_000011.8:g.86343543T>C
NCBI36
NG_011752.1:g.5539A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000531380.2:c.233A>G
MANE Select
ENSP00000434034.1:p.Gln78Arg
ENST00000531380.1:c.233A>G
ENSP00000434034.1:p.Gln78Arg
NM_012193.3:c.233A>G
NP_036325.2:p.Gln78Arg
NM_012193.4:c.233A>G
MANE Select
NP_036325.2:p.Gln78Arg
Search 100 bp 5'
Search 100 bp 3'