Canonical Allele Identifier: CA1103108
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152303917G>A
GRCh37 chr1:g.152276393G>A
gnomAD v2:
1:152276393 G / A
gnomAD v3:
1:152303917 G / A
gnomAD v4:
chr1-152303917-G-A
Joint Max Group AF 0.00061607 (EAS)
Genomes Max Group AF 0.00026879 (EAS)
Exomes Max Group AF 0.00060819 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152303917G>A , CM000663.2:g.152303917G>A GRCh38
NC_000001.10:g.152276393G>A , CM000663.1:g.152276393G>A GRCh37
NC_000001.9:g.150543017G>A NCBI36
NG_016190.1:g.26287C>T , LRG_1028:g.26287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10969C>T MANE Select ENSP00000357789.1:p.Arg3657Ter
ENST00000368799.1:c.10969C>T ENSP00000357789.1:p.Arg3657Ter
NM_002016.1:c.10969C>T , LRG_1028t1:c.10969C>T NP_002007.1:p.Arg3657Ter
XM_011509329.1:c.9109-84C>T XP_011507631.1:n.9109-84C>T
NM_002016.2:c.10969C>T MANE Select NP_002007.1:p.Arg3657Ter
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