Canonical Allele Identifier: CA342081315
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311143C>A , CM000663.2:g.152311143C>A GRCh38
NC_000001.10:g.152283619C>A , CM000663.1:g.152283619C>A GRCh37
NC_000001.9:g.150550243C>A NCBI36
NG_016190.1:g.19061G>T , LRG_1028:g.19061G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3743G>T MANE Select ENSP00000357789.1:p.Arg1248Ile
ENST00000368799.1:c.3743G>T ENSP00000357789.1:p.Arg1248Ile
NM_002016.1:c.3743G>T , LRG_1028t1:c.3743G>T NP_002007.1:p.Arg1248Ile
XM_011509329.1:c.3743G>T XP_011507631.1:p.Arg1248Ile
NM_002016.2:c.3743G>T MANE Select NP_002007.1:p.Arg1248Ile