Canonical Allele Identifier: CA1105358
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1229450
ClinVar RCV Id: RCV001609690
dbSNP Id: rs78125326

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308660C>T , CM000663.2:g.152308660C>T GRCh38
NC_000001.10:g.152281136C>T , CM000663.1:g.152281136C>T GRCh37
NC_000001.9:g.150547760C>T NCBI36
NG_016190.1:g.21544G>A , LRG_1028:g.21544G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6226G>A MANE Select ENSP00000357789.1:p.Ala2076Thr
ENST00000368799.1:c.6226G>A ENSP00000357789.1:p.Ala2076Thr
NM_002016.1:c.6226G>A , LRG_1028t1:c.6226G>A NP_002007.1:p.Ala2076Thr
XM_011509329.1:c.6226G>A XP_011507631.1:p.Ala2076Thr
NM_002016.2:c.6226G>A MANE Select NP_002007.1:p.Ala2076Thr