Canonical Allele Identifier: CA1103276
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2507623
ClinVar RCV Id: RCV003254146
dbSNP Id: rs779005414
ExAC: 1:152276789 G / C
gnomAD v2: 1-152276789-G-C
gnomAD v3: 1-152304313-G-C
gnomAD v4: 1-152304313-G-C
MyVariant Identifiers: chr1:g.152276789G>C (hg19) chr1:g.152304313G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304313G>C , CM000663.2:g.152304313G>C GRCh38
NC_000001.10:g.152276789G>C , CM000663.1:g.152276789G>C GRCh37
NC_000001.9:g.150543413G>C NCBI36
NG_016190.1:g.25891C>G , LRG_1028:g.25891C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10573C>G MANE Select ENSP00000357789.1:p.Gln3525Glu
ENST00000368799.1:c.10573C>G ENSP00000357789.1:p.Gln3525Glu
NM_002016.1:c.10573C>G , LRG_1028t1:c.10573C>G NP_002007.1:p.Gln3525Glu
XM_011509329.1:c.9109-480C>G XP_011507631.1:n.9109-480C>G
NM_002016.2:c.10573C>G MANE Select NP_002007.1:p.Gln3525Glu
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