Canonical Allele Identifier: CA2479949244
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307643G= , CM000663.2:g.152307643G= GRCh38
NC_000001.10:g.152280119G= , CM000663.1:g.152280119G= GRCh37
NC_000001.9:g.150546743G= NCBI36
NG_016190.1:g.22561C= , LRG_1028:g.22561C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7243C= MANE Select ENSP00000357789.1:p.Leu2415=
ENST00000368799.1:c.7243C= ENSP00000357789.1:p.Leu2415=
NM_002016.1:c.7243C= , LRG_1028t1:c.7243C= NP_002007.1:p.Leu2415=
XM_011509329.1:c.7243C= XP_011507631.1:p.Leu2415=
NM_002016.2:c.7243C= MANE Select NP_002007.1:p.Leu2415=