Canonical Allele Identifier: CA1107177
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs138597668
ExAC: 1:152284932 T / G
gnomAD v2: 1-152284932-T-G
gnomAD v3: 1-152312456-T-G
gnomAD v4: 1-152312456-T-G
MyVariant Identifiers: chr1:g.152284932T>G (hg19) chr1:g.152312456T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312456T>G , CM000663.2:g.152312456T>G GRCh38
NC_000001.10:g.152284932T>G , CM000663.1:g.152284932T>G GRCh37
NC_000001.9:g.150551556T>G NCBI36
NG_016190.1:g.17748A>C , LRG_1028:g.17748A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2430A>C MANE Select ENSP00000357789.1:p.Thr810=
ENST00000368799.1:c.2430A>C ENSP00000357789.1:p.Thr810=
NM_002016.1:c.2430A>C , LRG_1028t1:c.2430A>C NP_002007.1:p.Thr810=
XM_011509329.1:c.2430A>C XP_011507631.1:p.Thr810=
NM_002016.2:c.2430A>C MANE Select NP_002007.1:p.Thr810=
Search 100 bp 5'
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