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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:
CA1700793176
Gene: SFRP4
HGNC
NCBI
EPDR1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000007.14:g.37906693A= , CM000669.2:g.37906693A=
GRCh38
NC_000007.13:g.37946295A= , CM000669.1:g.37946295A=
GRCh37
NC_000007.12:g.37912820A=
NCBI36
NG_052980.1:g.15231T=
Transcript Alleles
HGVS
Amino-acid change
ENST00000436072.7:c.*786T=
(SFRP4)
MANE Select
ENSP00000410715.2:n.*786T=
ENST00000436072.6:c.*786T=
(SFRP4)
ENSP00000410715.2:n.*786T=
ENST00000476620.1:c.-37-42147A=
(EPDR1)
ENSP00000425858.1:n.-37-42147A=
NM_003014.3:c.*786T=
(SFRP4)
NP_003005.2:n.*786T=
NM_003014.4:c.*786T=
(SFRP4)
MANE Select
NP_003005.2:n.*786T=
Search 100 bp 5'
Search 100 bp 3'