Canonical Allele Identifier: CA1106688
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2581071
ClinVar RCV Id: RCV003330305
dbSNP Id: rs542661380
ExAC: 1:152283937 TG / T
gnomAD v2: 1-152283937-TG-T
gnomAD v3: 1-152311461-TG-T
gnomAD v4: 1-152311461-TG-T
MyVariant Identifiers: chr1:g.152283938del (hg19) chr1:g.152311462del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311462del , CM000663.2:g.152311462del GRCh38
NC_000001.10:g.152283938del , CM000663.1:g.152283938del GRCh37
NC_000001.9:g.150550562del NCBI36
NG_016190.1:g.18742del , LRG_1028:g.18742del

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3424del MANE Select ENSP00000357789.1:p.Gln1142LysfsTer?
ENST00000368799.1:c.3424del ENSP00000357789.1:p.Gln1142LysfsTer?
NM_002016.1:c.3424del , LRG_1028t1:c.3424del NP_002007.1:p.Gln1142LysfsTer?
XM_011509329.1:c.3424del XP_011507631.1:p.Gln1142LysfsTer?
NM_002016.2:c.3424del MANE Select NP_002007.1:p.Gln1142LysfsTer?
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