Canonical Allele Identifier: CA1107169
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2591148
ClinVar RCV Id: RCV003340448
dbSNP Id: rs527537468
ExAC: 1:152284922 T / C
gnomAD v2: 1-152284922-T-C
gnomAD v3: 1-152312446-T-C
gnomAD v4: 1-152312446-T-C
MyVariant Identifiers: chr1:g.152284922T>C (hg19) chr1:g.152312446T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312446T>C , CM000663.2:g.152312446T>C GRCh38
NC_000001.10:g.152284922T>C , CM000663.1:g.152284922T>C GRCh37
NC_000001.9:g.150551546T>C NCBI36
NG_016190.1:g.17758A>G , LRG_1028:g.17758A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2440A>G MANE Select ENSP00000357789.1:p.Thr814Ala
ENST00000368799.1:c.2440A>G ENSP00000357789.1:p.Thr814Ala
NM_002016.1:c.2440A>G , LRG_1028t1:c.2440A>G NP_002007.1:p.Thr814Ala
XM_011509329.1:c.2440A>G XP_011507631.1:p.Thr814Ala
NM_002016.2:c.2440A>G MANE Select NP_002007.1:p.Thr814Ala
Search 100 bp 5'
Search 100 bp 3'