Canonical Allele Identifier: CA342080732
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311030A>C , CM000663.2:g.152311030A>C GRCh38
NC_000001.10:g.152283506A>C , CM000663.1:g.152283506A>C GRCh37
NC_000001.9:g.150550130A>C NCBI36
NG_016190.1:g.19174T>G , LRG_1028:g.19174T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3856T>G MANE Select ENSP00000357789.1:p.Leu1286Val
ENST00000368799.1:c.3856T>G ENSP00000357789.1:p.Leu1286Val
NM_002016.1:c.3856T>G , LRG_1028t1:c.3856T>G NP_002007.1:p.Leu1286Val
XM_011509329.1:c.3856T>G XP_011507631.1:p.Leu1286Val
NM_002016.2:c.3856T>G MANE Select NP_002007.1:p.Leu1286Val