Canonical Allele Identifier: CA1103400
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2349141
ClinVar RCV Id: RCV002973109
dbSNP Id: rs777370285
ExAC: 1:152277017 G / A
gnomAD v2: 1-152277017-G-A
gnomAD v3: 1-152304541-G-A
gnomAD v4: 1-152304541-G-A
MyVariant Identifiers: chr1:g.152277017G>A (hg19) chr1:g.152304541G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304541G>A , CM000663.2:g.152304541G>A GRCh38
NC_000001.10:g.152277017G>A , CM000663.1:g.152277017G>A GRCh37
NC_000001.9:g.150543641G>A NCBI36
NG_016190.1:g.25663C>T , LRG_1028:g.25663C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10345C>T MANE Select ENSP00000357789.1:p.His3449Tyr
ENST00000368799.1:c.10345C>T ENSP00000357789.1:p.His3449Tyr
NM_002016.1:c.10345C>T , LRG_1028t1:c.10345C>T NP_002007.1:p.His3449Tyr
XM_011509329.1:c.9109-708C>T XP_011507631.1:n.9109-708C>T
NM_002016.2:c.10345C>T MANE Select NP_002007.1:p.His3449Tyr
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