Canonical Allele Identifier: CA1103657
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2343541
ClinVar RCV Id: RCV002926526
dbSNP Id: rs550176166
ExAC: 1:152277532 C / T
gnomAD v2: 1-152277532-C-T
gnomAD v3: 1-152305056-C-T
gnomAD v4: 1-152305056-C-T
COSMIC: COSM5733178
MyVariant Identifiers: chr1:g.152277532C>T (hg19) chr1:g.152305056C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305056C>T , CM000663.2:g.152305056C>T GRCh38
NC_000001.10:g.152277532C>T , CM000663.1:g.152277532C>T GRCh37
NC_000001.9:g.150544156C>T NCBI36
NG_016190.1:g.25148G>A , LRG_1028:g.25148G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9830G>A MANE Select ENSP00000357789.1:p.Arg3277His
ENST00000368799.1:c.9830G>A ENSP00000357789.1:p.Arg3277His
NM_002016.1:c.9830G>A , LRG_1028t1:c.9830G>A NP_002007.1:p.Arg3277His
XM_011509329.1:c.9108+722G>A XP_011507631.1:n.9108+722G>A
NM_002016.2:c.9830G>A MANE Select NP_002007.1:p.Arg3277His
Search 100 bp 5'
Search 100 bp 3'