Canonical Allele Identifier: CA342075480

Gene: FLG

Linked Data

• dbSNP Id: rs1484882216
• gnomAD v2: 1-152283039-G-T
• gnomAD v4: 1-152310563-G-T
• MyVariant Identifiers: chr1:g.152283039G>T (hg19) ; chr1:g.152310563G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310563G>T , CM000663.2:g.152310563G>T	GRCh38
NC_000001.10:g.152283039G>T , CM000663.1:g.152283039G>T	GRCh37
NC_000001.9:g.150549663G>T	NCBI36
NG_016190.1:g.19641C>A , LRG_1028:g.19641C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4323C>A MANE Select	ENSP00000357789.1:p.Phe1441Leu
ENST00000368799.1:c.4323C>A	ENSP00000357789.1:p.Phe1441Leu
NM_002016.1:c.4323C>A , LRG_1028t1:c.4323C>A	NP_002007.1:p.Phe1441Leu
XM_011509329.1:c.4323C>A	XP_011507631.1:p.Phe1441Leu
NM_002016.2:c.4323C>A MANE Select	NP_002007.1:p.Phe1441Leu