Canonical Allele Identifier: CA1106554

Gene: FLG

Linked Data

• ClinVar Variation Id: 2227870
• ClinVar RCV Id: RCV002702600
• dbSNP Id: rs747972455
• ExAC: 1:152283668 G / T
• gnomAD v2: 1-152283668-G-T
• gnomAD v3: 1-152311192-G-T
• gnomAD v4: 1-152311192-G-T
• MyVariant Identifiers: chr1:g.152283668G>T (hg19) ; chr1:g.152311192G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311192G>T , CM000663.2:g.152311192G>T	GRCh38
NC_000001.10:g.152283668G>T , CM000663.1:g.152283668G>T	GRCh37
NC_000001.9:g.150550292G>T	NCBI36
NG_016190.1:g.19012C>A , LRG_1028:g.19012C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3694C>A MANE Select	ENSP00000357789.1:p.His1232Asn
ENST00000368799.1:c.3694C>A	ENSP00000357789.1:p.His1232Asn
NM_002016.1:c.3694C>A , LRG_1028t1:c.3694C>A	NP_002007.1:p.His1232Asn
XM_011509329.1:c.3694C>A	XP_011507631.1:p.His1232Asn
NM_002016.2:c.3694C>A MANE Select	NP_002007.1:p.His1232Asn