Canonical Allele Identifier: CA342048193
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1225265642

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307690G>T , CM000663.2:g.152307690G>T GRCh38
NC_000001.10:g.152280166G>T , CM000663.1:g.152280166G>T GRCh37
NC_000001.9:g.150546790G>T NCBI36
NG_016190.1:g.22514C>A , LRG_1028:g.22514C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7196C>A MANE Select ENSP00000357789.1:p.Ser2399Tyr
ENST00000368799.1:c.7196C>A ENSP00000357789.1:p.Ser2399Tyr
NM_002016.1:c.7196C>A , LRG_1028t1:c.7196C>A NP_002007.1:p.Ser2399Tyr
XM_011509329.1:c.7196C>A XP_011507631.1:p.Ser2399Tyr
NM_002016.2:c.7196C>A MANE Select NP_002007.1:p.Ser2399Tyr