Canonical Allele Identifier: CA420930545
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152283495A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311019A>T , CM000663.2:g.152311019A>T GRCh38
NC_000001.10:g.152283495A>T , CM000663.1:g.152283495A>T GRCh37
NC_000001.9:g.150550119A>T NCBI36
NG_016190.1:g.19185T>A , LRG_1028:g.19185T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3867T>A MANE Select ENSP00000357789.1:p.Ser1289=
ENST00000368799.1:c.3867T>A ENSP00000357789.1:p.Ser1289=
NM_002016.1:c.3867T>A , LRG_1028t1:c.3867T>A NP_002007.1:p.Ser1289=
XM_011509329.1:c.3867T>A XP_011507631.1:p.Ser1289=
NM_002016.2:c.3867T>A MANE Select NP_002007.1:p.Ser1289=