Canonical Allele Identifier: CA30602741
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2318627
ClinVar RCV Id: RCV002910727
dbSNP Id: rs980412764
gnomAD v4: 1-152304981-T-A
MyVariant Identifiers: chr1:g.152277457T>A (hg19) chr1:g.152304981T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304981T>A , CM000663.2:g.152304981T>A GRCh38
NC_000001.10:g.152277457T>A , CM000663.1:g.152277457T>A GRCh37
NC_000001.9:g.150544081T>A NCBI36
NG_016190.1:g.25223A>T , LRG_1028:g.25223A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9905A>T MANE Select ENSP00000357789.1:p.His3302Leu
ENST00000368799.1:c.9905A>T ENSP00000357789.1:p.His3302Leu
NM_002016.1:c.9905A>T , LRG_1028t1:c.9905A>T NP_002007.1:p.His3302Leu
XM_011509329.1:c.9108+797A>T XP_011507631.1:n.9108+797A>T
NM_002016.2:c.9905A>T MANE Select NP_002007.1:p.His3302Leu
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