Canonical Allele Identifier: CA1107069
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2366009
ClinVar RCV Id: RCV002987414
dbSNP Id: rs779375909
ExAC: 1:152284726 C / A
gnomAD v2: 1-152284726-C-A
gnomAD v3: 1-152312250-C-A
gnomAD v4: 1-152312250-C-A
MyVariant Identifiers: chr1:g.152284726C>A (hg19) chr1:g.152312250C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312250C>A , CM000663.2:g.152312250C>A GRCh38
NC_000001.10:g.152284726C>A , CM000663.1:g.152284726C>A GRCh37
NC_000001.9:g.150551350C>A NCBI36
NG_016190.1:g.17954G>T , LRG_1028:g.17954G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2636G>T MANE Select ENSP00000357789.1:p.Arg879Met
ENST00000368799.1:c.2636G>T ENSP00000357789.1:p.Arg879Met
NM_002016.1:c.2636G>T , LRG_1028t1:c.2636G>T NP_002007.1:p.Arg879Met
XM_011509329.1:c.2636G>T XP_011507631.1:p.Arg879Met
NM_002016.2:c.2636G>T MANE Select NP_002007.1:p.Arg879Met
Search 100 bp 5'
Search 100 bp 3'