Canonical Allele Identifier: CA1107811
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152313823G>A
GRCh37 chr1:g.152286299G>A
gnomAD v2:
1:152286299 G / A
gnomAD v3:
1:152313823 G / A
gnomAD v4:
chr1-152313823-G-A
Joint Max Group AF 0.00009691 (NFE)
Genomes Max Group AF 0.00001171 (NFE)
Exomes Max Group AF 0.00010018 (NFE)
ClinVar RCV:
RCV000342574
RCV001814139
ClinVar Variation:
280412
dbSNP:
142991475
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313823G>A , CM000663.2:g.152313823G>A GRCh38
NC_000001.10:g.152286299G>A , CM000663.1:g.152286299G>A GRCh37
NC_000001.9:g.150552923G>A NCBI36
NG_016190.1:g.16381C>T , LRG_1028:g.16381C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.1063C>T MANE Select ENSP00000357789.1:p.Gln355Ter
ENST00000368799.1:c.1063C>T ENSP00000357789.1:p.Gln355Ter
NM_002016.1:c.1063C>T , LRG_1028t1:c.1063C>T NP_002007.1:p.Gln355Ter
NR_103778.1:n.365G>A
XM_011509329.1:c.1063C>T XP_011507631.1:p.Gln355Ter
NM_002016.2:c.1063C>T MANE Select NP_002007.1:p.Gln355Ter
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