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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:
CA342103931
Gene: FLG
HGNC
NCBI
Linked Data
COSMIC:
COSM6058145
MyVariant Identifiers:
chr1:g.152286385C>G (hg19)
chr1:g.152313909C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152313909C>G , CM000663.2:g.152313909C>G
GRCh38
NC_000001.10:g.152286385C>G , CM000663.1:g.152286385C>G
GRCh37
NC_000001.9:g.150553009C>G
NCBI36
NG_016190.1:g.16295G>C , LRG_1028:g.16295G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000368799.2:c.977G>C
MANE Select
ENSP00000357789.1:p.Trp326Ser
ENST00000368799.1:c.977G>C
ENSP00000357789.1:p.Trp326Ser
NM_002016.1:c.977G>C , LRG_1028t1:c.977G>C
NP_002007.1:p.Trp326Ser
NR_103778.1:n.451C>G
XM_011509329.1:c.977G>C
XP_011507631.1:p.Trp326Ser
NM_002016.2:c.977G>C
MANE Select
NP_002007.1:p.Trp326Ser
Search 100 bp 5'
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