Canonical Allele Identifier: CA342068998
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs180796833

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304336C>G , CM000663.2:g.152304336C>G GRCh38
NC_000001.10:g.152276812C>G , CM000663.1:g.152276812C>G GRCh37
NC_000001.9:g.150543436C>G NCBI36
NG_016190.1:g.25868G>C , LRG_1028:g.25868G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10550G>C MANE Select ENSP00000357789.1:p.Arg3517Thr
ENST00000368799.1:c.10550G>C ENSP00000357789.1:p.Arg3517Thr
NM_002016.1:c.10550G>C , LRG_1028t1:c.10550G>C NP_002007.1:p.Arg3517Thr
XM_011509329.1:c.9109-503G>C XP_011507631.1:n.9109-503G>C
NM_002016.2:c.10550G>C MANE Select NP_002007.1:p.Arg3517Thr