Canonical Allele Identifier: CA1105452
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs749636062
ExAC: 1:152281329 G / A
gnomAD v2: 1-152281329-G-A
gnomAD v4: 1-152308853-G-A
MyVariant Identifiers: chr1:g.152281329G>A (hg19) chr1:g.152308853G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308853G>A , CM000663.2:g.152308853G>A GRCh38
NC_000001.10:g.152281329G>A , CM000663.1:g.152281329G>A GRCh37
NC_000001.9:g.150547953G>A NCBI36
NG_016190.1:g.21351C>T , LRG_1028:g.21351C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6033C>T MANE Select ENSP00000357789.1:p.Leu2011=
ENST00000368799.1:c.6033C>T ENSP00000357789.1:p.Leu2011=
NM_002016.1:c.6033C>T , LRG_1028t1:c.6033C>T NP_002007.1:p.Leu2011=
XM_011509329.1:c.6033C>T XP_011507631.1:p.Leu2011=
NM_002016.2:c.6033C>T MANE Select NP_002007.1:p.Leu2011=
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