Canonical Allele Identifier: CA1107150
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs762159918
ExAC: 1:152284885 C / T
gnomAD v2: 1-152284885-C-T
gnomAD v3: 1-152312409-C-T
gnomAD v4: 1-152312409-C-T
COSMIC: COSM311205
MyVariant Identifiers: chr1:g.152284885C>T (hg19) chr1:g.152312409C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312409C>T , CM000663.2:g.152312409C>T GRCh38
NC_000001.10:g.152284885C>T , CM000663.1:g.152284885C>T GRCh37
NC_000001.9:g.150551509C>T NCBI36
NG_016190.1:g.17795G>A , LRG_1028:g.17795G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2477G>A MANE Select ENSP00000357789.1:p.Arg826Gln
ENST00000368799.1:c.2477G>A ENSP00000357789.1:p.Arg826Gln
NM_002016.1:c.2477G>A , LRG_1028t1:c.2477G>A NP_002007.1:p.Arg826Gln
XM_011509329.1:c.2477G>A XP_011507631.1:p.Arg826Gln
NM_002016.2:c.2477G>A MANE Select NP_002007.1:p.Arg826Gln
Search 100 bp 5'
Search 100 bp 3'