Canonical Allele Identifier: CA342076035
Gene: FLG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305146G>C , CM000663.2:g.152305146G>C GRCh38
NC_000001.10:g.152277622G>C , CM000663.1:g.152277622G>C GRCh37
NC_000001.9:g.150544246G>C NCBI36
NG_016190.1:g.25058C>G , LRG_1028:g.25058C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9740C>G MANE Select ENSP00000357789.1:p.Ser3247Ter
ENST00000368799.1:c.9740C>G ENSP00000357789.1:p.Ser3247Ter
NM_002016.1:c.9740C>G , LRG_1028t1:c.9740C>G NP_002007.1:p.Ser3247Ter
XM_011509329.1:c.9108+632C>G XP_011507631.1:n.9108+632C>G
NM_002016.2:c.9740C>G MANE Select NP_002007.1:p.Ser3247Ter