Canonical Allele Identifier: CA1104864
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 225361
ClinVar RCV Id: RCV000490295
dbSNP Id: rs535289422
ExAC: 1:152280173 G / A
gnomAD v2: 1-152280173-G-A
gnomAD v3: 1-152307697-G-A
gnomAD v4: 1-152307697-G-A
MyVariant Identifiers: chr1:g.152280173G>A (hg19) chr1:g.152307697G>A (hg38)
PubMed: PMID:21923666 PMID:22220561
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307697G>A , CM000663.2:g.152307697G>A GRCh38
NC_000001.10:g.152280173G>A , CM000663.1:g.152280173G>A GRCh37
NC_000001.9:g.150546797G>A NCBI36
NG_016190.1:g.22507C>T , LRG_1028:g.22507C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7189C>T MANE Select ENSP00000357789.1:p.Gln2397Ter
ENST00000368799.1:c.7189C>T ENSP00000357789.1:p.Gln2397Ter
NM_002016.1:c.7189C>T , LRG_1028t1:c.7189C>T NP_002007.1:p.Gln2397Ter
XM_011509329.1:c.7189C>T XP_011507631.1:p.Gln2397Ter
NM_002016.2:c.7189C>T MANE Select NP_002007.1:p.Gln2397Ter
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