Canonical Allele Identifier: CA1146255076
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310103T= , CM000663.2:g.152310103T= GRCh38
NC_000001.10:g.152282579T= , CM000663.1:g.152282579T= GRCh37
NC_000001.9:g.150549203T= NCBI36
NG_016190.1:g.20101A= , LRG_1028:g.20101A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4783A= MANE Select ENSP00000357789.1:p.Ser1595=
ENST00000368799.1:c.4783A= ENSP00000357789.1:p.Ser1595=
NM_002016.1:c.4783A= , LRG_1028t1:c.4783A= NP_002007.1:p.Ser1595=
XM_011509329.1:c.4783A= XP_011507631.1:p.Ser1595=
NM_002016.2:c.4783A= MANE Select NP_002007.1:p.Ser1595=