Canonical Allele Identifier: CA1106666
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs762134967
ExAC: 1:152283903 G / T
gnomAD v2: 1-152283903-G-T
gnomAD v3: 1-152311427-G-T
gnomAD v4: 1-152311427-G-T
MyVariant Identifiers: chr1:g.152283903G>T (hg19) chr1:g.152311427G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311427G>T , CM000663.2:g.152311427G>T GRCh38
NC_000001.10:g.152283903G>T , CM000663.1:g.152283903G>T GRCh37
NC_000001.9:g.150550527G>T NCBI36
NG_016190.1:g.18777C>A , LRG_1028:g.18777C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3459C>A MANE Select ENSP00000357789.1:p.Ser1153=
ENST00000368799.1:c.3459C>A ENSP00000357789.1:p.Ser1153=
NM_002016.1:c.3459C>A , LRG_1028t1:c.3459C>A NP_002007.1:p.Ser1153=
XM_011509329.1:c.3459C>A XP_011507631.1:p.Ser1153=
NM_002016.2:c.3459C>A MANE Select NP_002007.1:p.Ser1153=
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