Canonical Allele Identifier: CA1105332
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs537052355
ExAC: 1:152281103 A / T
gnomAD v2: 1-152281103-A-T
gnomAD v3: 1-152308627-A-T
gnomAD v4: 1-152308627-A-T
MyVariant Identifiers: chr1:g.152281103A>T (hg19) chr1:g.152308627A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308627A>T , CM000663.2:g.152308627A>T GRCh38
NC_000001.10:g.152281103A>T , CM000663.1:g.152281103A>T GRCh37
NC_000001.9:g.150547727A>T NCBI36
NG_016190.1:g.21577T>A , LRG_1028:g.21577T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6259T>A MANE Select ENSP00000357789.1:p.Ser2087Thr
ENST00000368799.1:c.6259T>A ENSP00000357789.1:p.Ser2087Thr
NM_002016.1:c.6259T>A , LRG_1028t1:c.6259T>A NP_002007.1:p.Ser2087Thr
XM_011509329.1:c.6259T>A XP_011507631.1:p.Ser2087Thr
NM_002016.2:c.6259T>A MANE Select NP_002007.1:p.Ser2087Thr
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