Canonical Allele Identifier: CA342104502

Gene: FLG

Linked Data

• gnomAD v4: 1-152314009-T-A
• MyVariant Identifiers: chr1:g.152286485T>A (hg19) ; chr1:g.152314009T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152314009T>A , CM000663.2:g.152314009T>A	GRCh38
NC_000001.10:g.152286485T>A , CM000663.1:g.152286485T>A	GRCh37
NC_000001.9:g.150553109T>A	NCBI36
NG_016190.1:g.16195A>T , LRG_1028:g.16195A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.877A>T MANE Select	ENSP00000357789.1:p.Arg293Trp
ENST00000368799.1:c.877A>T	ENSP00000357789.1:p.Arg293Trp
NM_002016.1:c.877A>T , LRG_1028t1:c.877A>T	NP_002007.1:p.Arg293Trp
NR_103778.1:n.551T>A
XM_011509329.1:c.877A>T	XP_011507631.1:p.Arg293Trp
NM_002016.2:c.877A>T MANE Select	NP_002007.1:p.Arg293Trp