Canonical Allele Identifier: CA420928568

Gene: FLG

Linked Data

• gnomAD v4: 1-152307644-G-A
• MyVariant Identifiers: chr1:g.152280120G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152307644G>A , CM000663.2:g.152307644G>A	GRCh38
NC_000001.10:g.152280120G>A , CM000663.1:g.152280120G>A	GRCh37
NC_000001.9:g.150546744G>A	NCBI36
NG_016190.1:g.22560C>T , LRG_1028:g.22560C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.7242C>T MANE Select	ENSP00000357789.1:p.Phe2414=
ENST00000368799.1:c.7242C>T	ENSP00000357789.1:p.Phe2414=
NM_002016.1:c.7242C>T , LRG_1028t1:c.7242C>T	NP_002007.1:p.Phe2414=
XM_011509329.1:c.7242C>T	XP_011507631.1:p.Phe2414=
NM_002016.2:c.7242C>T MANE Select	NP_002007.1:p.Phe2414=