Canonical Allele Identifier: CA1107156
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs543138888
ExAC: 1:152284899 G / T
gnomAD v2: 1-152284899-G-T
gnomAD v3: 1-152312423-G-T
gnomAD v4: 1-152312423-G-T
MyVariant Identifiers: chr1:g.152284899G>T (hg19) chr1:g.152312423G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312423G>T , CM000663.2:g.152312423G>T GRCh38
NC_000001.10:g.152284899G>T , CM000663.1:g.152284899G>T GRCh37
NC_000001.9:g.150551523G>T NCBI36
NG_016190.1:g.17781C>A , LRG_1028:g.17781C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2463C>A MANE Select ENSP00000357789.1:p.His821Gln
ENST00000368799.1:c.2463C>A ENSP00000357789.1:p.His821Gln
NM_002016.1:c.2463C>A , LRG_1028t1:c.2463C>A NP_002007.1:p.His821Gln
XM_011509329.1:c.2463C>A XP_011507631.1:p.His821Gln
NM_002016.2:c.2463C>A MANE Select NP_002007.1:p.His821Gln
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