Canonical Allele Identifier: CA1105477

Gene: FLG

Linked Data

• ClinVar Variation Id: 2221655
• ClinVar RCV Id: RCV002683149
• dbSNP Id: rs556604607
• ExAC: 1:152281390 G / A
• gnomAD v2: 1-152281390-G-A
• gnomAD v3: 1-152308914-G-A
• gnomAD v4: 1-152308914-G-A
• MyVariant Identifiers: chr1:g.152281390G>A (hg19) ; chr1:g.152308914G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308914G>A , CM000663.2:g.152308914G>A	GRCh38
NC_000001.10:g.152281390G>A , CM000663.1:g.152281390G>A	GRCh37
NC_000001.9:g.150548014G>A	NCBI36
NG_016190.1:g.21290C>T , LRG_1028:g.21290C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.5972C>T MANE Select	ENSP00000357789.1:p.Ala1991Val
ENST00000368799.1:c.5972C>T	ENSP00000357789.1:p.Ala1991Val
NM_002016.1:c.5972C>T , LRG_1028t1:c.5972C>T	NP_002007.1:p.Ala1991Val
XM_011509329.1:c.5972C>T	XP_011507631.1:p.Ala1991Val
NM_002016.2:c.5972C>T MANE Select	NP_002007.1:p.Ala1991Val