Canonical Allele Identifier: CA1106334
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs771524427
ExAC: 1:152283168 A / C
gnomAD v2: 1-152283168-A-C
gnomAD v3: 1-152310692-A-C
gnomAD v4: 1-152310692-A-C
MyVariant Identifiers: chr1:g.152283168A>C (hg19) chr1:g.152310692A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310692A>C , CM000663.2:g.152310692A>C GRCh38
NC_000001.10:g.152283168A>C , CM000663.1:g.152283168A>C GRCh37
NC_000001.9:g.150549792A>C NCBI36
NG_016190.1:g.19512T>G , LRG_1028:g.19512T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4194T>G MANE Select ENSP00000357789.1:p.Ser1398Arg
ENST00000368799.1:c.4194T>G ENSP00000357789.1:p.Ser1398Arg
NM_002016.1:c.4194T>G , LRG_1028t1:c.4194T>G NP_002007.1:p.Ser1398Arg
XM_011509329.1:c.4194T>G XP_011507631.1:p.Ser1398Arg
NM_002016.2:c.4194T>G MANE Select NP_002007.1:p.Ser1398Arg
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