Canonical Allele Identifier: CA342084072

Gene: FLG

Linked Data

• gnomAD v4: 1-152311545-G-T
• MyVariant Identifiers: chr1:g.152284021G>T (hg19) ; chr1:g.152311545G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152311545G>T , CM000663.2:g.152311545G>T	GRCh38
NC_000001.10:g.152284021G>T , CM000663.1:g.152284021G>T	GRCh37
NC_000001.9:g.150550645G>T	NCBI36
NG_016190.1:g.18659C>A , LRG_1028:g.18659C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.3341C>A MANE Select	ENSP00000357789.1:p.Ser1114Ter
ENST00000368799.1:c.3341C>A	ENSP00000357789.1:p.Ser1114Ter
NM_002016.1:c.3341C>A , LRG_1028t1:c.3341C>A	NP_002007.1:p.Ser1114Ter
XM_011509329.1:c.3341C>A	XP_011507631.1:p.Ser1114Ter
NM_002016.2:c.3341C>A MANE Select	NP_002007.1:p.Ser1114Ter