Canonical Allele Identifier: CA420929699
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652284874
gnomAD v3: 1-152310065-A-T
gnomAD v4: 1-152310065-A-T
MyVariant Identifiers: chr1:g.152282541A>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310065A>T , CM000663.2:g.152310065A>T GRCh38
NC_000001.10:g.152282541A>T , CM000663.1:g.152282541A>T GRCh37
NC_000001.9:g.150549165A>T NCBI36
NG_016190.1:g.20139T>A , LRG_1028:g.20139T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4821T>A MANE Select ENSP00000357789.1:p.Ser1607=
ENST00000368799.1:c.4821T>A ENSP00000357789.1:p.Ser1607=
NM_002016.1:c.4821T>A , LRG_1028t1:c.4821T>A NP_002007.1:p.Ser1607=
XM_011509329.1:c.4821T>A XP_011507631.1:p.Ser1607=
NM_002016.2:c.4821T>A MANE Select NP_002007.1:p.Ser1607=
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