Canonical Allele Identifier: CA1140581484
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305078G= , CM000663.2:g.152305078G= GRCh38
NC_000001.10:g.152277554G= , CM000663.1:g.152277554G= GRCh37
NC_000001.9:g.150544178G= NCBI36
NG_016190.1:g.25126C= , LRG_1028:g.25126C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9808C= MANE Select ENSP00000357789.1:p.Arg3270=
ENST00000368799.1:c.9808C= ENSP00000357789.1:p.Arg3270=
NM_002016.1:c.9808C= , LRG_1028t1:c.9808C= NP_002007.1:p.Arg3270=
XM_011509329.1:c.9108+700C= XP_011507631.1:n.9108+700C=
NM_002016.2:c.9808C= MANE Select NP_002007.1:p.Arg3270=