Canonical Allele Identifier: CA1104828
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152307637G>A
GRCh37 chr1:g.152280113G>A
gnomAD v2:
1:152280113 G / A
gnomAD v3:
1:152307637 G / A
gnomAD v4:
chr1-152307637-G-A
Joint Max Group AF 0.00057667 (EAS)
Genomes Max Group AF 0.00064257 (EAS)
Exomes Max Group AF 0.00050076 (EAS)
ClinVar RCV:
RCV000434890
RCV002248656
ClinVar Variation:
381660
dbSNP:
528722713
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307637G>A , CM000663.2:g.152307637G>A GRCh38
NC_000001.10:g.152280113G>A , CM000663.1:g.152280113G>A GRCh37
NC_000001.9:g.150546737G>A NCBI36
NG_016190.1:g.22567C>T , LRG_1028:g.22567C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7249C>T MANE Select ENSP00000357789.1:p.Gln2417Ter
ENST00000368799.1:c.7249C>T ENSP00000357789.1:p.Gln2417Ter
NM_002016.1:c.7249C>T , LRG_1028t1:c.7249C>T NP_002007.1:p.Gln2417Ter
XM_011509329.1:c.7249C>T XP_011507631.1:p.Gln2417Ter
NM_002016.2:c.7249C>T MANE Select NP_002007.1:p.Gln2417Ter
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