Canonical Allele Identifier: CA1107842
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1179868
ClinVar RCV Id: RCV001536945
dbSNP Id: rs75429799
ExAC: 1:152286388 G / A
gnomAD v2: 1-152286388-G-A
gnomAD v3: 1-152313912-G-A
gnomAD v4: 1-152313912-G-A
COSMIC: COSM2157037
MyVariant Identifiers: chr1:g.152286388G>A (hg19) chr1:g.152313912G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313912G>A , CM000663.2:g.152313912G>A GRCh38
NC_000001.10:g.152286388G>A , CM000663.1:g.152286388G>A GRCh37
NC_000001.9:g.150553012G>A NCBI36
NG_016190.1:g.16292C>T , LRG_1028:g.16292C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.974C>T MANE Select ENSP00000357789.1:p.Ala325Val
ENST00000368799.1:c.974C>T ENSP00000357789.1:p.Ala325Val
NM_002016.1:c.974C>T , LRG_1028t1:c.974C>T NP_002007.1:p.Ala325Val
NR_103778.1:n.454G>A
XM_011509329.1:c.974C>T XP_011507631.1:p.Ala325Val
NM_002016.2:c.974C>T MANE Select NP_002007.1:p.Ala325Val
Search 100 bp 5'
Search 100 bp 3'