Canonical Allele Identifier: CA420930710

Gene: FLG

Linked Data

• gnomAD v4: 1-152312468-G-T
• MyVariant Identifiers: chr1:g.152284944G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152312468G>T , CM000663.2:g.152312468G>T	GRCh38
NC_000001.10:g.152284944G>T , CM000663.1:g.152284944G>T	GRCh37
NC_000001.9:g.150551568G>T	NCBI36
NG_016190.1:g.17736C>A , LRG_1028:g.17736C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.2418C>A MANE Select	ENSP00000357789.1:p.Ser806=
ENST00000368799.1:c.2418C>A	ENSP00000357789.1:p.Ser806=
NM_002016.1:c.2418C>A , LRG_1028t1:c.2418C>A	NP_002007.1:p.Ser806=
XM_011509329.1:c.2418C>A	XP_011507631.1:p.Ser806=
NM_002016.2:c.2418C>A MANE Select	NP_002007.1:p.Ser806=