Canonical Allele Identifier: CA1105656
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2639281
ClinVar RCV Id: RCV003408975
dbSNP Id: rs36006086
ExAC: 1:152281691 G / T
gnomAD v2: 1-152281691-G-T
gnomAD v3: 1-152309215-G-T
gnomAD v4: 1-152309215-G-T
MyVariant Identifiers: chr1:g.152281691G>T (hg19) chr1:g.152309215G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309215G>T , CM000663.2:g.152309215G>T GRCh38
NC_000001.10:g.152281691G>T , CM000663.1:g.152281691G>T GRCh37
NC_000001.9:g.150548315G>T NCBI36
NG_016190.1:g.20989C>A , LRG_1028:g.20989C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5671C>A MANE Select ENSP00000357789.1:p.Arg1891=
ENST00000368799.1:c.5671C>A ENSP00000357789.1:p.Arg1891=
NM_002016.1:c.5671C>A , LRG_1028t1:c.5671C>A NP_002007.1:p.Arg1891=
XM_011509329.1:c.5671C>A XP_011507631.1:p.Arg1891=
NM_002016.2:c.5671C>A MANE Select NP_002007.1:p.Arg1891=
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