Canonical Allele Identifier: CA1103648
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs561860398
COSMIC: COSM352818

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305038G>T , CM000663.2:g.152305038G>T GRCh38
NC_000001.10:g.152277514G>T , CM000663.1:g.152277514G>T GRCh37
NC_000001.9:g.150544138G>T NCBI36
NG_016190.1:g.25166C>A , LRG_1028:g.25166C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9848C>A MANE Select ENSP00000357789.1:p.Ser3283Tyr
ENST00000368799.1:c.9848C>A ENSP00000357789.1:p.Ser3283Tyr
NM_002016.1:c.9848C>A , LRG_1028t1:c.9848C>A NP_002007.1:p.Ser3283Tyr
XM_011509329.1:c.9108+740C>A XP_011507631.1:n.9108+740C>A
NM_002016.2:c.9848C>A MANE Select NP_002007.1:p.Ser3283Tyr