Canonical Allele Identifier: CA1104861
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2409018
ClinVar RCV Id: RCV002784417
dbSNP Id: rs553468192
ExAC: 1:152280161 G / T
gnomAD v2: 1-152280161-G-T
gnomAD v3: 1-152307685-G-T
gnomAD v4: 1-152307685-G-T
MyVariant Identifiers: chr1:g.152280161G>T (hg19) chr1:g.152307685G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307685G>T , CM000663.2:g.152307685G>T GRCh38
NC_000001.10:g.152280161G>T , CM000663.1:g.152280161G>T GRCh37
NC_000001.9:g.150546785G>T NCBI36
NG_016190.1:g.22519C>A , LRG_1028:g.22519C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7201C>A MANE Select ENSP00000357789.1:p.Arg2401Ser
ENST00000368799.1:c.7201C>A ENSP00000357789.1:p.Arg2401Ser
NM_002016.1:c.7201C>A , LRG_1028t1:c.7201C>A NP_002007.1:p.Arg2401Ser
XM_011509329.1:c.7201C>A XP_011507631.1:p.Arg2401Ser
NM_002016.2:c.7201C>A MANE Select NP_002007.1:p.Arg2401Ser
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