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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:
CA8861419
Gene: FN3K
HGNC
NCBI
Linked Data
dbSNP Id:
rs763485150
ExAC:
17:80708512 C / G
gnomAD v4:
17-82750636-C-G
MyVariant Identifiers:
chr17:g.80708512C>G (hg19)
chr17:g.82750636C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.82750636C>G , CM000679.2:g.82750636C>G
GRCh38
NC_000017.10:g.80708512C>G , CM000679.1:g.80708512C>G
GRCh37
NC_000017.9:g.78301801C>G
NCBI36
NG_011721.1:g.3573C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000300784.8:c.811C>G
MANE Select
ENSP00000300784.7:p.Pro271Ala
ENST00000300784.7:c.811C>G
ENSP00000300784.7:p.Pro271Ala
NM_022158.3:c.811C>G
NP_071441.1:p.Pro271Ala
XM_024450872.1:c.661C>G
XP_024306640.1:p.Pro221Ala
NM_022158.4:c.811C>G
MANE Select
NP_071441.1:p.Pro271Ala
Search 100 bp 5'
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