Canonical Allele Identifier: CA1107910
Gene: FLG HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.152314107G>C
GRCh37 chr1:g.152286583G>C
gnomAD v2:
1:152286583 G / C
gnomAD v3:
1:152314107 G / C
gnomAD v4:
chr1-152314107-G-C
Joint Max Group AF 0.00000542 (NFE)
Genomes Max Group AF 0.00000488 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152314107G>C , CM000663.2:g.152314107G>C GRCh38
NC_000001.10:g.152286583G>C , CM000663.1:g.152286583G>C GRCh37
NC_000001.9:g.150553207G>C NCBI36
NG_016190.1:g.16097C>G , LRG_1028:g.16097C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.779C>G MANE Select ENSP00000357789.1:p.Ser260Ter
ENST00000368799.1:c.779C>G ENSP00000357789.1:p.Ser260Ter
NM_002016.1:c.779C>G , LRG_1028t1:c.779C>G NP_002007.1:p.Ser260Ter
NR_103778.1:n.580+69G>C
XM_011509329.1:c.779C>G XP_011507631.1:p.Ser260Ter
NM_002016.2:c.779C>G MANE Select NP_002007.1:p.Ser260Ter
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