Canonical Allele Identifier: CA1104780
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152307547G>T
GRCh37 chr1:g.152280023G>T
gnomAD v2:
1:152280023 G / T
gnomAD v3:
1:152307547 G / T
gnomAD v4:
chr1-152307547-G-T
Joint Max Group AF 0.00005285 (AFR)
Genomes Max Group AF 0.00003255 (AFR)
Exomes Max Group AF 0.00003983 (AFR)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307547G>T , CM000663.2:g.152307547G>T GRCh38
NC_000001.10:g.152280023G>T , CM000663.1:g.152280023G>T GRCh37
NC_000001.9:g.150546647G>T NCBI36
NG_016190.1:g.22657C>A , LRG_1028:g.22657C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7339C>A MANE Select ENSP00000357789.1:p.Arg2447=
ENST00000368799.1:c.7339C>A ENSP00000357789.1:p.Arg2447=
NM_002016.1:c.7339C>A , LRG_1028t1:c.7339C>A NP_002007.1:p.Arg2447=
XM_011509329.1:c.7339C>A XP_011507631.1:p.Arg2447=
NM_002016.2:c.7339C>A MANE Select NP_002007.1:p.Arg2447=
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