Canonical Allele Identifier: CA1106557
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2239737
ClinVar RCV Id: RCV002714172
dbSNP Id: rs372766052
ExAC: 1:152283674 A / T
gnomAD v2: 1-152283674-A-T
gnomAD v3: 1-152311198-A-T
gnomAD v4: 1-152311198-A-T
MyVariant Identifiers: chr1:g.152283674A>T (hg19) chr1:g.152311198A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311198A>T , CM000663.2:g.152311198A>T GRCh38
NC_000001.10:g.152283674A>T , CM000663.1:g.152283674A>T GRCh37
NC_000001.9:g.150550298A>T NCBI36
NG_016190.1:g.19006T>A , LRG_1028:g.19006T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3688T>A MANE Select ENSP00000357789.1:p.Ser1230Thr
ENST00000368799.1:c.3688T>A ENSP00000357789.1:p.Ser1230Thr
NM_002016.1:c.3688T>A , LRG_1028t1:c.3688T>A NP_002007.1:p.Ser1230Thr
XM_011509329.1:c.3688T>A XP_011507631.1:p.Ser1230Thr
NM_002016.2:c.3688T>A MANE Select NP_002007.1:p.Ser1230Thr
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