Canonical Allele Identifier: CA342048330
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307708T>A , CM000663.2:g.152307708T>A GRCh38
NC_000001.10:g.152280184T>A , CM000663.1:g.152280184T>A GRCh37
NC_000001.9:g.150546808T>A NCBI36
NG_016190.1:g.22496A>T , LRG_1028:g.22496A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7178A>T MANE Select ENSP00000357789.1:p.Gln2393Leu
ENST00000368799.1:c.7178A>T ENSP00000357789.1:p.Gln2393Leu
NM_002016.1:c.7178A>T , LRG_1028t1:c.7178A>T NP_002007.1:p.Gln2393Leu
XM_011509329.1:c.7178A>T XP_011507631.1:p.Gln2393Leu
NM_002016.2:c.7178A>T MANE Select NP_002007.1:p.Gln2393Leu