Canonical Allele Identifier: CA342049238
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307759T>C , CM000663.2:g.152307759T>C GRCh38
NC_000001.10:g.152280235T>C , CM000663.1:g.152280235T>C GRCh37
NC_000001.9:g.150546859T>C NCBI36
NG_016190.1:g.22445A>G , LRG_1028:g.22445A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7127A>G MANE Select ENSP00000357789.1:p.Glu2376Gly
ENST00000368799.1:c.7127A>G ENSP00000357789.1:p.Glu2376Gly
NM_002016.1:c.7127A>G , LRG_1028t1:c.7127A>G NP_002007.1:p.Glu2376Gly
XM_011509329.1:c.7127A>G XP_011507631.1:p.Glu2376Gly
NM_002016.2:c.7127A>G MANE Select NP_002007.1:p.Glu2376Gly