Canonical Allele Identifier: CA1107219

Gene: FLG

Linked Data

• dbSNP Id: rs558836936
• ExAC: 1:152285018 G / T
• gnomAD v2: 1-152285018-G-T
• gnomAD v3: 1-152312542-G-T
• gnomAD v4: 1-152312542-G-T
• MyVariant Identifiers: chr1:g.152285018G>T (hg19) ; chr1:g.152312542G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312542G>T , CM000663.2:g.152312542G>T	GRCh38
NC_000001.10:g.152285018G>T , CM000663.1:g.152285018G>T	GRCh37
NC_000001.9:g.150551642G>T	NCBI36
NG_016190.1:g.17662C>A , LRG_1028:g.17662C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2344C>A MANE Select	ENSP00000357789.1:p.Arg782=
ENST00000368799.1:c.2344C>A	ENSP00000357789.1:p.Arg782=
NM_002016.1:c.2344C>A , LRG_1028t1:c.2344C>A	NP_002007.1:p.Arg782=
XM_011509329.1:c.2344C>A	XP_011507631.1:p.Arg782=
NM_002016.2:c.2344C>A MANE Select	NP_002007.1:p.Arg782=