Canonical Allele Identifier: CA1106217
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1278160
ClinVar RCV Id: RCV001694901
dbSNP Id: rs71626706
ExAC: 1:152282910 G / C
gnomAD v2: 1-152282910-G-C
gnomAD v3: 1-152310434-G-C
gnomAD v4: 1-152310434-G-C
MyVariant Identifiers: chr1:g.152282910G>C (hg19) chr1:g.152310434G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310434G>C , CM000663.2:g.152310434G>C GRCh38
NC_000001.10:g.152282910G>C , CM000663.1:g.152282910G>C GRCh37
NC_000001.9:g.150549534G>C NCBI36
NG_016190.1:g.19770C>G , LRG_1028:g.19770C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4452C>G MANE Select ENSP00000357789.1:p.Asp1484Glu
ENST00000368799.1:c.4452C>G ENSP00000357789.1:p.Asp1484Glu
NM_002016.1:c.4452C>G , LRG_1028t1:c.4452C>G NP_002007.1:p.Asp1484Glu
XM_011509329.1:c.4452C>G XP_011507631.1:p.Asp1484Glu
NM_002016.2:c.4452C>G MANE Select NP_002007.1:p.Asp1484Glu
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