Canonical Allele Identifier: CA1107130

Gene: FLG

Linked Data

• dbSNP Id: rs764114936
• ExAC: 1:152284838 G / A
• gnomAD v2: 1-152284838-G-A
• gnomAD v3: 1-152312362-G-A
• gnomAD v4: 1-152312362-G-A
• COSMIC: COSM5377658
• MyVariant Identifiers: chr1:g.152284838G>A (hg19) ; chr1:g.152312362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312362G>A , CM000663.2:g.152312362G>A	GRCh38
NC_000001.10:g.152284838G>A , CM000663.1:g.152284838G>A	GRCh37
NC_000001.9:g.150551462G>A	NCBI36
NG_016190.1:g.17842C>T , LRG_1028:g.17842C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2524C>T MANE Select	ENSP00000357789.1:p.Arg842Cys
ENST00000368799.1:c.2524C>T	ENSP00000357789.1:p.Arg842Cys
NM_002016.1:c.2524C>T , LRG_1028t1:c.2524C>T	NP_002007.1:p.Arg842Cys
XM_011509329.1:c.2524C>T	XP_011507631.1:p.Arg842Cys
NM_002016.2:c.2524C>T MANE Select	NP_002007.1:p.Arg842Cys