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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:
CA106878278
Gene: FREM3
HGNC
NCBI
Linked Data
dbSNP Id:
rs908147492
gnomAD v3:
4-143695140-T-A
gnomAD v4:
4-143695140-T-A
MyVariant Identifiers:
chr4:g.144616293T>A (hg19)
chr4:g.143695140T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.143695140T>A , CM000666.2:g.143695140T>A
GRCh38
NC_000004.11:g.144616293T>A , CM000666.1:g.144616293T>A
GRCh37
NC_000004.10:g.144835743T>A
NCBI36
NG_052820.1:g.10536A>T
Transcript Alleles
HGVS
Amino-acid Change
ENST00000329798.5:c.5185+351A>T
MANE Select
ENSP00000332886.5:n.5185+351A>T
NM_001168235.1:c.5185+351A>T
NP_001161707.1:n.5185+351A>T
NM_001168235.2:c.5185+351A>T
MANE Select
NP_001161707.1:n.5185+351A>T
Search 100 bp 5'
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