Canonical Allele Identifier: CA342080703
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2315456
ClinVar RCV Id: RCV002919288
dbSNP Id: rs557235683

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311024C>T , CM000663.2:g.152311024C>T GRCh38
NC_000001.10:g.152283500C>T , CM000663.1:g.152283500C>T GRCh37
NC_000001.9:g.150550124C>T NCBI36
NG_016190.1:g.19180G>A , LRG_1028:g.19180G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3862G>A MANE Select ENSP00000357789.1:p.Gly1288Arg
ENST00000368799.1:c.3862G>A ENSP00000357789.1:p.Gly1288Arg
NM_002016.1:c.3862G>A , LRG_1028t1:c.3862G>A NP_002007.1:p.Gly1288Arg
XM_011509329.1:c.3862G>A XP_011507631.1:p.Gly1288Arg
NM_002016.2:c.3862G>A MANE Select NP_002007.1:p.Gly1288Arg