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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:
CA342058618
Gene: FLG
HGNC
NCBI
Linked Data
dbSNP Id:
rs1330658133
gnomAD v2:
1-152281342-G-A
gnomAD v4:
1-152308866-G-A
COSMIC:
COSM228274
MyVariant Identifiers:
chr1:g.152281342G>A (hg19)
chr1:g.152308866G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152308866G>A , CM000663.2:g.152308866G>A
GRCh38
NC_000001.10:g.152281342G>A , CM000663.1:g.152281342G>A
GRCh37
NC_000001.9:g.150547966G>A
NCBI36
NG_016190.1:g.21338C>T , LRG_1028:g.21338C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000368799.2:c.6020C>T
MANE Select
ENSP00000357789.1:p.Ser2007Phe
ENST00000368799.1:c.6020C>T
ENSP00000357789.1:p.Ser2007Phe
NM_002016.1:c.6020C>T , LRG_1028t1:c.6020C>T
NP_002007.1:p.Ser2007Phe
XM_011509329.1:c.6020C>T
XP_011507631.1:p.Ser2007Phe
NM_002016.2:c.6020C>T
MANE Select
NP_002007.1:p.Ser2007Phe
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