Canonical Allele Identifier: CA342074966
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305008T>C , CM000663.2:g.152305008T>C GRCh38
NC_000001.10:g.152277484T>C , CM000663.1:g.152277484T>C GRCh37
NC_000001.9:g.150544108T>C NCBI36
NG_016190.1:g.25196A>G , LRG_1028:g.25196A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9878A>G MANE Select ENSP00000357789.1:p.Gln3293Arg
ENST00000368799.1:c.9878A>G ENSP00000357789.1:p.Gln3293Arg
NM_002016.1:c.9878A>G , LRG_1028t1:c.9878A>G NP_002007.1:p.Gln3293Arg
XM_011509329.1:c.9108+770A>G XP_011507631.1:n.9108+770A>G
NM_002016.2:c.9878A>G MANE Select NP_002007.1:p.Gln3293Arg