Canonical Allele Identifier: CA342089436
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1223941252

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312413C>T , CM000663.2:g.152312413C>T GRCh38
NC_000001.10:g.152284889C>T , CM000663.1:g.152284889C>T GRCh37
NC_000001.9:g.150551513C>T NCBI36
NG_016190.1:g.17791G>A , LRG_1028:g.17791G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2473G>A MANE Select ENSP00000357789.1:p.Ala825Thr
ENST00000368799.1:c.2473G>A ENSP00000357789.1:p.Ala825Thr
NM_002016.1:c.2473G>A , LRG_1028t1:c.2473G>A NP_002007.1:p.Ala825Thr
XM_011509329.1:c.2473G>A XP_011507631.1:p.Ala825Thr
NM_002016.2:c.2473G>A MANE Select NP_002007.1:p.Ala825Thr