Canonical Allele Identifier: CA420928993

Gene: FLG

Linked Data

• dbSNP Id: rs751279387
• gnomAD v4: 1-152308649-C-T
• MyVariant Identifiers: chr1:g.152281125C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308649C>T , CM000663.2:g.152308649C>T	GRCh38
NC_000001.10:g.152281125C>T , CM000663.1:g.152281125C>T	GRCh37
NC_000001.9:g.150547749C>T	NCBI36
NG_016190.1:g.21555G>A , LRG_1028:g.21555G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6237G>A MANE Select	ENSP00000357789.1:p.Gln2079=
ENST00000368799.1:c.6237G>A	ENSP00000357789.1:p.Gln2079=
NM_002016.1:c.6237G>A , LRG_1028t1:c.6237G>A	NP_002007.1:p.Gln2079=
XM_011509329.1:c.6237G>A	XP_011507631.1:p.Gln2079=
NM_002016.2:c.6237G>A MANE Select	NP_002007.1:p.Gln2079=