Canonical Allele Identifier: CA420928801
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs750914357
gnomAD v4: 1-152308742-C-T
MyVariant Identifiers: chr1:g.152281218C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308742C>T , CM000663.2:g.152308742C>T GRCh38
NC_000001.10:g.152281218C>T , CM000663.1:g.152281218C>T GRCh37
NC_000001.9:g.150547842C>T NCBI36
NG_016190.1:g.21462G>A , LRG_1028:g.21462G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6144G>A MANE Select ENSP00000357789.1:p.Glu2048=
ENST00000368799.1:c.6144G>A ENSP00000357789.1:p.Glu2048=
NM_002016.1:c.6144G>A , LRG_1028t1:c.6144G>A NP_002007.1:p.Glu2048=
XM_011509329.1:c.6144G>A XP_011507631.1:p.Glu2048=
NM_002016.2:c.6144G>A MANE Select NP_002007.1:p.Glu2048=
Search 100 bp 5'
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