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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:
CA342054088
Gene: FLG
HGNC
NCBI
Linked Data
dbSNP Id:
rs769130811
gnomAD v2:
1-152281031-T-A
gnomAD v3:
1-152308555-T-A
gnomAD v4:
1-152308555-T-A
MyVariant Identifiers:
chr1:g.152281031T>A (hg19)
chr1:g.152308555T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.152308555T>A , CM000663.2:g.152308555T>A
GRCh38
NC_000001.10:g.152281031T>A , CM000663.1:g.152281031T>A
GRCh37
NC_000001.9:g.150547655T>A
NCBI36
NG_016190.1:g.21649A>T , LRG_1028:g.21649A>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000368799.2:c.6331A>T
MANE Select
ENSP00000357789.1:p.Thr2111Ser
ENST00000368799.1:c.6331A>T
ENSP00000357789.1:p.Thr2111Ser
NM_002016.1:c.6331A>T , LRG_1028t1:c.6331A>T
NP_002007.1:p.Thr2111Ser
XM_011509329.1:c.6331A>T
XP_011507631.1:p.Thr2111Ser
NM_002016.2:c.6331A>T
MANE Select
NP_002007.1:p.Thr2111Ser
Search 100 bp 5'
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