Canonical Allele Identifier: CA342089549
Gene: FLG HGNC NCBI

Linked Data

COSMIC: COSM5522701
MyVariant Identifiers: chr1:g.152284903G>A (hg19) chr1:g.152312427G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312427G>A , CM000663.2:g.152312427G>A GRCh38
NC_000001.10:g.152284903G>A , CM000663.1:g.152284903G>A GRCh37
NC_000001.9:g.150551527G>A NCBI36
NG_016190.1:g.17777C>T , LRG_1028:g.17777C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2459C>T MANE Select ENSP00000357789.1:p.Ser820Phe
ENST00000368799.1:c.2459C>T ENSP00000357789.1:p.Ser820Phe
NM_002016.1:c.2459C>T , LRG_1028t1:c.2459C>T NP_002007.1:p.Ser820Phe
XM_011509329.1:c.2459C>T XP_011507631.1:p.Ser820Phe
NM_002016.2:c.2459C>T MANE Select NP_002007.1:p.Ser820Phe
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