Canonical Allele Identifier: CA1106634

Gene: FLG

Linked Data

• ClinVar Variation Id: 2382620
• ClinVar RCV Id: RCV002684688
• dbSNP Id: rs528500943
• ExAC: 1:152283821 G / A
• gnomAD v2: 1-152283821-G-A
• gnomAD v3: 1-152311345-G-A
• gnomAD v4: 1-152311345-G-A
• MyVariant Identifiers: chr1:g.152283821G>A (hg19) ; chr1:g.152311345G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311345G>A , CM000663.2:g.152311345G>A	GRCh38
NC_000001.10:g.152283821G>A , CM000663.1:g.152283821G>A	GRCh37
NC_000001.9:g.150550445G>A	NCBI36
NG_016190.1:g.18859C>T , LRG_1028:g.18859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3541C>T MANE Select	ENSP00000357789.1:p.His1181Tyr
ENST00000368799.1:c.3541C>T	ENSP00000357789.1:p.His1181Tyr
NM_002016.1:c.3541C>T , LRG_1028t1:c.3541C>T	NP_002007.1:p.His1181Tyr
XM_011509329.1:c.3541C>T	XP_011507631.1:p.His1181Tyr
NM_002016.2:c.3541C>T MANE Select	NP_002007.1:p.His1181Tyr