Canonical Allele Identifier: CA1105454
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095511
ClinVar RCV Id: RCV004386829
dbSNP Id: rs140561538

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308855G>T , CM000663.2:g.152308855G>T GRCh38
NC_000001.10:g.152281331G>T , CM000663.1:g.152281331G>T GRCh37
NC_000001.9:g.150547955G>T NCBI36
NG_016190.1:g.21349C>A , LRG_1028:g.21349C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6031C>A MANE Select ENSP00000357789.1:p.Leu2011Ile
ENST00000368799.1:c.6031C>A ENSP00000357789.1:p.Leu2011Ile
NM_002016.1:c.6031C>A , LRG_1028t1:c.6031C>A NP_002007.1:p.Leu2011Ile
XM_011509329.1:c.6031C>A XP_011507631.1:p.Leu2011Ile
NM_002016.2:c.6031C>A MANE Select NP_002007.1:p.Leu2011Ile