Canonical Allele Identifier: CA342075394
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs147429418
gnomAD v4: 1-152305077-C-G
MyVariant Identifiers: chr1:g.152277553C>G (hg19) chr1:g.152305077C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305077C>G , CM000663.2:g.152305077C>G GRCh38
NC_000001.10:g.152277553C>G , CM000663.1:g.152277553C>G GRCh37
NC_000001.9:g.150544177C>G NCBI36
NG_016190.1:g.25127G>C , LRG_1028:g.25127G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9809G>C MANE Select ENSP00000357789.1:p.Arg3270Pro
ENST00000368799.1:c.9809G>C ENSP00000357789.1:p.Arg3270Pro
NM_002016.1:c.9809G>C , LRG_1028t1:c.9809G>C NP_002007.1:p.Arg3270Pro
XM_011509329.1:c.9108+701G>C XP_011507631.1:n.9108+701G>C
NM_002016.2:c.9809G>C MANE Select NP_002007.1:p.Arg3270Pro
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