Canonical Allele Identifier: CA1106547

Gene: FLG

Linked Data

• dbSNP Id: rs144184134
• ExAC: 1:152283656 G / A
• gnomAD v2: 1-152283656-G-A
• gnomAD v3: 1-152311180-G-A
• gnomAD v4: 1-152311180-G-A
• COSMIC: COSM367889
• MyVariant Identifiers: chr1:g.152283656G>A (hg19) ; chr1:g.152311180G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311180G>A , CM000663.2:g.152311180G>A	GRCh38
NC_000001.10:g.152283656G>A , CM000663.1:g.152283656G>A	GRCh37
NC_000001.9:g.150550280G>A	NCBI36
NG_016190.1:g.19024C>T , LRG_1028:g.19024C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3706C>T MANE Select	ENSP00000357789.1:p.Arg1236Cys
ENST00000368799.1:c.3706C>T	ENSP00000357789.1:p.Arg1236Cys
NM_002016.1:c.3706C>T , LRG_1028t1:c.3706C>T	NP_002007.1:p.Arg1236Cys
XM_011509329.1:c.3706C>T	XP_011507631.1:p.Arg1236Cys
NM_002016.2:c.3706C>T MANE Select	NP_002007.1:p.Arg1236Cys