Canonical Allele Identifier: CA1105328
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2374643
ClinVar RCV Id: RCV003012712
dbSNP Id: rs553906156
ExAC: 1:152281092 G / T
gnomAD v2: 1-152281092-G-T
gnomAD v3: 1-152308616-G-T
gnomAD v4: 1-152308616-G-T
MyVariant Identifiers: chr1:g.152281092G>T (hg19) chr1:g.152308616G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308616G>T , CM000663.2:g.152308616G>T GRCh38
NC_000001.10:g.152281092G>T , CM000663.1:g.152281092G>T GRCh37
NC_000001.9:g.150547716G>T NCBI36
NG_016190.1:g.21588C>A , LRG_1028:g.21588C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6270C>A MANE Select ENSP00000357789.1:p.Phe2090Leu
ENST00000368799.1:c.6270C>A ENSP00000357789.1:p.Phe2090Leu
NM_002016.1:c.6270C>A , LRG_1028t1:c.6270C>A NP_002007.1:p.Phe2090Leu
XM_011509329.1:c.6270C>A XP_011507631.1:p.Phe2090Leu
NM_002016.2:c.6270C>A MANE Select NP_002007.1:p.Phe2090Leu
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