Canonical Allele Identifier: CA1106579
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs552832261
COSMIC: COSM896137

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311225G>A , CM000663.2:g.152311225G>A GRCh38
NC_000001.10:g.152283701G>A , CM000663.1:g.152283701G>A GRCh37
NC_000001.9:g.150550325G>A NCBI36
NG_016190.1:g.18979C>T , LRG_1028:g.18979C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3661C>T MANE Select ENSP00000357789.1:p.Arg1221Cys
ENST00000368799.1:c.3661C>T ENSP00000357789.1:p.Arg1221Cys
NM_002016.1:c.3661C>T , LRG_1028t1:c.3661C>T NP_002007.1:p.Arg1221Cys
XM_011509329.1:c.3661C>T XP_011507631.1:p.Arg1221Cys
NM_002016.2:c.3661C>T MANE Select NP_002007.1:p.Arg1221Cys