Canonical Allele Identifier: CA2479951220
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311158C= , CM000663.2:g.152311158C= GRCh38
NC_000001.10:g.152283634C= , CM000663.1:g.152283634C= GRCh37
NC_000001.9:g.150550258C= NCBI36
NG_016190.1:g.19046G= , LRG_1028:g.19046G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3728G= MANE Select ENSP00000357789.1:p.Trp1243=
ENST00000368799.1:c.3728G= ENSP00000357789.1:p.Trp1243=
NM_002016.1:c.3728G= , LRG_1028t1:c.3728G= NP_002007.1:p.Trp1243=
XM_011509329.1:c.3728G= XP_011507631.1:p.Trp1243=
NM_002016.2:c.3728G= MANE Select NP_002007.1:p.Trp1243=