Canonical Allele Identifier: CA342074864
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2275274
ClinVar RCV Id: RCV002817862
dbSNP Id: rs375291235
gnomAD v3: 1-152304997-T-G
gnomAD v4: 1-152304997-T-G
COSMIC: COSM1252512
MyVariant Identifiers: chr1:g.152277473T>G (hg19) chr1:g.152304997T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304997T>G , CM000663.2:g.152304997T>G GRCh38
NC_000001.10:g.152277473T>G , CM000663.1:g.152277473T>G GRCh37
NC_000001.9:g.150544097T>G NCBI36
NG_016190.1:g.25207A>C , LRG_1028:g.25207A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9889A>C MANE Select ENSP00000357789.1:p.Ser3297Arg
ENST00000368799.1:c.9889A>C ENSP00000357789.1:p.Ser3297Arg
NM_002016.1:c.9889A>C , LRG_1028t1:c.9889A>C NP_002007.1:p.Ser3297Arg
XM_011509329.1:c.9108+781A>C XP_011507631.1:n.9108+781A>C
NM_002016.2:c.9889A>C MANE Select NP_002007.1:p.Ser3297Arg
Search 100 bp 5'
Search 100 bp 3'