Canonical Allele Identifier: CA1106230
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3025094
ClinVar RCV Id: RCV003885970
dbSNP Id: rs144605772

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310461G>T , CM000663.2:g.152310461G>T GRCh38
NC_000001.10:g.152282937G>T , CM000663.1:g.152282937G>T GRCh37
NC_000001.9:g.150549561G>T NCBI36
NG_016190.1:g.19743C>A , LRG_1028:g.19743C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4425C>A MANE Select ENSP00000357789.1:p.Asn1475Lys
ENST00000368799.1:c.4425C>A ENSP00000357789.1:p.Asn1475Lys
NM_002016.1:c.4425C>A , LRG_1028t1:c.4425C>A NP_002007.1:p.Asn1475Lys
XM_011509329.1:c.4425C>A XP_011507631.1:p.Asn1475Lys
NM_002016.2:c.4425C>A MANE Select NP_002007.1:p.Asn1475Lys