Canonical Allele Identifier: CA342089632
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2318916
ClinVar RCV Id: RCV002888887
dbSNP Id: rs1336303897

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312442C>G , CM000663.2:g.152312442C>G GRCh38
NC_000001.10:g.152284918C>G , CM000663.1:g.152284918C>G GRCh37
NC_000001.9:g.150551542C>G NCBI36
NG_016190.1:g.17762G>C , LRG_1028:g.17762G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2444G>C MANE Select ENSP00000357789.1:p.Gly815Ala
ENST00000368799.1:c.2444G>C ENSP00000357789.1:p.Gly815Ala
NM_002016.1:c.2444G>C , LRG_1028t1:c.2444G>C NP_002007.1:p.Gly815Ala
XM_011509329.1:c.2444G>C XP_011507631.1:p.Gly815Ala
NM_002016.2:c.2444G>C MANE Select NP_002007.1:p.Gly815Ala