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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:
CA225383013
Gene: FZD4
HGNC
NCBI
Linked Data
dbSNP Id:
rs866483790
gnomAD v2:
11-86665807-A-C
gnomAD v4:
11-86954765-A-C
MyVariant Identifiers:
chr11:g.86665807A>C (hg19)
chr11:g.86954765A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.86954765A>C , CM000673.2:g.86954765A>C
GRCh38
NC_000011.9:g.86665807A>C , CM000673.1:g.86665807A>C
GRCh37
NC_000011.8:g.86343455A>C
NCBI36
NG_011752.1:g.5627T>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000531380.2:c.285+36T>G
MANE Select
ENSP00000434034.1:n.285+36T>G
ENST00000531380.1:c.285+36T>G
ENSP00000434034.1:n.285+36T>G
NM_012193.3:c.285+36T>G
NP_036325.2:n.285+36T>G
NM_012193.4:c.285+36T>G
MANE Select
NP_036325.2:n.285+36T>G
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