Canonical Allele Identifier: CA1107185
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1208753
ClinVar RCV Id: RCV001577188
dbSNP Id: rs72698904
ExAC: 1:152284948 G / A
gnomAD v2: 1-152284948-G-A
gnomAD v3: 1-152312472-G-A
gnomAD v4: 1-152312472-G-A
MyVariant Identifiers: chr1:g.152284948G>A (hg19) chr1:g.152312472G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312472G>A , CM000663.2:g.152312472G>A GRCh38
NC_000001.10:g.152284948G>A , CM000663.1:g.152284948G>A GRCh37
NC_000001.9:g.150551572G>A NCBI36
NG_016190.1:g.17732C>T , LRG_1028:g.17732C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2414C>T MANE Select ENSP00000357789.1:p.Ser805Phe
ENST00000368799.1:c.2414C>T ENSP00000357789.1:p.Ser805Phe
NM_002016.1:c.2414C>T , LRG_1028t1:c.2414C>T NP_002007.1:p.Ser805Phe
XM_011509329.1:c.2414C>T XP_011507631.1:p.Ser805Phe
NM_002016.2:c.2414C>T MANE Select NP_002007.1:p.Ser805Phe
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