Canonical Allele Identifier: CA1104861

Gene: FLG

Linked Data

• ClinVar Variation Id: 2409018
• ClinVar RCV Id: RCV002784417
• dbSNP Id: rs553468192
• ExAC: 1:152280161 G / T
• gnomAD v2: 1-152280161-G-T
• gnomAD v3: 1-152307685-G-T
• gnomAD v4: 1-152307685-G-T
• MyVariant Identifiers: chr1:g.152280161G>T (hg19) ; chr1:g.152307685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152307685G>T , CM000663.2:g.152307685G>T	GRCh38
NC_000001.10:g.152280161G>T , CM000663.1:g.152280161G>T	GRCh37
NC_000001.9:g.150546785G>T	NCBI36
NG_016190.1:g.22519C>A , LRG_1028:g.22519C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.7201C>A MANE Select	ENSP00000357789.1:p.Arg2401Ser
ENST00000368799.1:c.7201C>A	ENSP00000357789.1:p.Arg2401Ser
NM_002016.1:c.7201C>A , LRG_1028t1:c.7201C>A	NP_002007.1:p.Arg2401Ser
XM_011509329.1:c.7201C>A	XP_011507631.1:p.Arg2401Ser
NM_002016.2:c.7201C>A MANE Select	NP_002007.1:p.Arg2401Ser