Canonical Allele Identifier: CA342104485

Gene: FLG

Linked Data

• gnomAD v4: 1-152314006-C-T
• COSMIC: COSM3474080
• MyVariant Identifiers: chr1:g.152286482C>T (hg19) ; chr1:g.152314006C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152314006C>T , CM000663.2:g.152314006C>T	GRCh38
NC_000001.10:g.152286482C>T , CM000663.1:g.152286482C>T	GRCh37
NC_000001.9:g.150553106C>T	NCBI36
NG_016190.1:g.16198G>A , LRG_1028:g.16198G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.880G>A MANE Select	ENSP00000357789.1:p.Gly294Arg
ENST00000368799.1:c.880G>A	ENSP00000357789.1:p.Gly294Arg
NM_002016.1:c.880G>A , LRG_1028t1:c.880G>A	NP_002007.1:p.Gly294Arg
NR_103778.1:n.548C>T
XM_011509329.1:c.880G>A	XP_011507631.1:p.Gly294Arg
NM_002016.2:c.880G>A MANE Select	NP_002007.1:p.Gly294Arg