Canonical Allele Identifier: CA1103651
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs761394031
ExAC: 1:152277517 G / A
gnomAD v2: 1-152277517-G-A
gnomAD v4: 1-152305041-G-A
COSMIC: COSM5907901
MyVariant Identifiers: chr1:g.152277517G>A (hg19) chr1:g.152305041G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305041G>A , CM000663.2:g.152305041G>A GRCh38
NC_000001.10:g.152277517G>A , CM000663.1:g.152277517G>A GRCh37
NC_000001.9:g.150544141G>A NCBI36
NG_016190.1:g.25163C>T , LRG_1028:g.25163C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9845C>T MANE Select ENSP00000357789.1:p.Ser3282Phe
ENST00000368799.1:c.9845C>T ENSP00000357789.1:p.Ser3282Phe
NM_002016.1:c.9845C>T , LRG_1028t1:c.9845C>T NP_002007.1:p.Ser3282Phe
XM_011509329.1:c.9108+737C>T XP_011507631.1:n.9108+737C>T
NM_002016.2:c.9845C>T MANE Select NP_002007.1:p.Ser3282Phe
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