Canonical Allele Identifier: CA1106463

Gene: FLG

Linked Data

• ClinVar Variation Id: 1328330
• ClinVar RCV Id: RCV001795762 ; RCV002544334
• dbSNP Id: rs150251062
• ExAC: 1:152283466 C / T
• gnomAD v2: 1-152283466-C-T
• gnomAD v3: 1-152310990-C-T
• gnomAD v4: 1-152310990-C-T
• COSMIC: COSM4022451
• MyVariant Identifiers: chr1:g.152283466C>T (hg19) ; chr1:g.152310990C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310990C>T , CM000663.2:g.152310990C>T	GRCh38
NC_000001.10:g.152283466C>T , CM000663.1:g.152283466C>T	GRCh37
NC_000001.9:g.150550090C>T	NCBI36
NG_016190.1:g.19214G>A , LRG_1028:g.19214G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3896G>A MANE Select	ENSP00000357789.1:p.Arg1299Gln
ENST00000368799.1:c.3896G>A	ENSP00000357789.1:p.Arg1299Gln
NM_002016.1:c.3896G>A , LRG_1028t1:c.3896G>A	NP_002007.1:p.Arg1299Gln
XM_011509329.1:c.3896G>A	XP_011507631.1:p.Arg1299Gln
NM_002016.2:c.3896G>A MANE Select	NP_002007.1:p.Arg1299Gln