Canonical Allele Identifier: CA1106230

Gene: FLG

Linked Data

• ClinVar Variation Id: 3025094
• ClinVar RCV Id: RCV003885970
• dbSNP Id: rs144605772
• ExAC: 1:152282937 G / T
• gnomAD v2: 1-152282937-G-T
• gnomAD v3: 1-152310461-G-T
• gnomAD v4: 1-152310461-G-T
• MyVariant Identifiers: chr1:g.152282937G>T (hg19) ; chr1:g.152310461G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310461G>T , CM000663.2:g.152310461G>T	GRCh38
NC_000001.10:g.152282937G>T , CM000663.1:g.152282937G>T	GRCh37
NC_000001.9:g.150549561G>T	NCBI36
NG_016190.1:g.19743C>A , LRG_1028:g.19743C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4425C>A MANE Select	ENSP00000357789.1:p.Asn1475Lys
ENST00000368799.1:c.4425C>A	ENSP00000357789.1:p.Asn1475Lys
NM_002016.1:c.4425C>A , LRG_1028t1:c.4425C>A	NP_002007.1:p.Asn1475Lys
XM_011509329.1:c.4425C>A	XP_011507631.1:p.Asn1475Lys
NM_002016.2:c.4425C>A MANE Select	NP_002007.1:p.Asn1475Lys