Canonical Allele Identifier: CA1103704
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152305146G>T
GRCh37 chr1:g.152277622G>T
gnomAD v2:
1:152277622 G / T
gnomAD v3:
1:152305146 G / T
gnomAD v4:
chr1-152305146-G-T
Joint Max Group AF 0.00344521 (NFE)
Genomes Max Group AF 0.00255391 (NFE)
Exomes Max Group AF 0.00348134 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305146G>T , CM000663.2:g.152305146G>T GRCh38
NC_000001.10:g.152277622G>T , CM000663.1:g.152277622G>T GRCh37
NC_000001.9:g.150544246G>T NCBI36
NG_016190.1:g.25058C>A , LRG_1028:g.25058C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9740C>A MANE Select ENSP00000357789.1:p.Ser3247Ter
ENST00000368799.1:c.9740C>A ENSP00000357789.1:p.Ser3247Ter
NM_002016.1:c.9740C>A , LRG_1028t1:c.9740C>A NP_002007.1:p.Ser3247Ter
XM_011509329.1:c.9108+632C>A XP_011507631.1:n.9108+632C>A
NM_002016.2:c.9740C>A MANE Select NP_002007.1:p.Ser3247Ter
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