Canonical Allele Identifier: CA342049212
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307747G>T , CM000663.2:g.152307747G>T GRCh38
NC_000001.10:g.152280223G>T , CM000663.1:g.152280223G>T GRCh37
NC_000001.9:g.150546847G>T NCBI36
NG_016190.1:g.22457C>A , LRG_1028:g.22457C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7139C>A MANE Select ENSP00000357789.1:p.Thr2380Lys
ENST00000368799.1:c.7139C>A ENSP00000357789.1:p.Thr2380Lys
NM_002016.1:c.7139C>A , LRG_1028t1:c.7139C>A NP_002007.1:p.Thr2380Lys
XM_011509329.1:c.7139C>A XP_011507631.1:p.Thr2380Lys
NM_002016.2:c.7139C>A MANE Select NP_002007.1:p.Thr2380Lys