Canonical Allele Identifier: CA1105433
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2593981
ClinVar RCV Id: RCV003368829
dbSNP Id: rs142592778

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308821A>G , CM000663.2:g.152308821A>G GRCh38
NC_000001.10:g.152281297A>G , CM000663.1:g.152281297A>G GRCh37
NC_000001.9:g.150547921A>G NCBI36
NG_016190.1:g.21383T>C , LRG_1028:g.21383T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6065T>C MANE Select ENSP00000357789.1:p.Ile2022Thr
ENST00000368799.1:c.6065T>C ENSP00000357789.1:p.Ile2022Thr
NM_002016.1:c.6065T>C , LRG_1028t1:c.6065T>C NP_002007.1:p.Ile2022Thr
XM_011509329.1:c.6065T>C XP_011507631.1:p.Ile2022Thr
NM_002016.2:c.6065T>C MANE Select NP_002007.1:p.Ile2022Thr