Canonical Allele Identifier: CA342071434
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304618C>T , CM000663.2:g.152304618C>T GRCh38
NC_000001.10:g.152277094C>T , CM000663.1:g.152277094C>T GRCh37
NC_000001.9:g.150543718C>T NCBI36
NG_016190.1:g.25586G>A , LRG_1028:g.25586G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10268G>A MANE Select ENSP00000357789.1:p.Arg3423Lys
ENST00000368799.1:c.10268G>A ENSP00000357789.1:p.Arg3423Lys
NM_002016.1:c.10268G>A , LRG_1028t1:c.10268G>A NP_002007.1:p.Arg3423Lys
XM_011509329.1:c.9109-785G>A XP_011507631.1:n.9109-785G>A
NM_002016.2:c.10268G>A MANE Select NP_002007.1:p.Arg3423Lys