Canonical Allele Identifier: CA1103663
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2370646
ClinVar RCV Id: RCV002981955
dbSNP Id: rs200552322

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305074G>T , CM000663.2:g.152305074G>T GRCh38
NC_000001.10:g.152277550G>T , CM000663.1:g.152277550G>T GRCh37
NC_000001.9:g.150544174G>T NCBI36
NG_016190.1:g.25130C>A , LRG_1028:g.25130C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9812C>A MANE Select ENSP00000357789.1:p.Ser3271Tyr
ENST00000368799.1:c.9812C>A ENSP00000357789.1:p.Ser3271Tyr
NM_002016.1:c.9812C>A , LRG_1028t1:c.9812C>A NP_002007.1:p.Ser3271Tyr
XM_011509329.1:c.9108+704C>A XP_011507631.1:n.9108+704C>A
NM_002016.2:c.9812C>A MANE Select NP_002007.1:p.Ser3271Tyr