Canonical Allele Identifier: CA420926567
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1162787802
gnomAD v2: 1-152276808-G-A
gnomAD v4: 1-152304332-G-A
MyVariant Identifiers: chr1:g.152276808G>A (hg19) chr1:g.152276808_152276809delinsAT (hg19) chr1:g.152304332G>A (hg38) chr1:g.152304332_152304333delinsAT (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304332G>A , CM000663.2:g.152304332G>A GRCh38
NC_000001.10:g.152276808G>A , CM000663.1:g.152276808G>A GRCh37
NC_000001.9:g.150543432G>A NCBI36
NG_016190.1:g.25872C>T , LRG_1028:g.25872C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10554C>T MANE Select ENSP00000357789.1:p.His3518=
ENST00000368799.1:c.10554C>T ENSP00000357789.1:p.His3518=
NM_002016.1:c.10554C>T , LRG_1028t1:c.10554C>T NP_002007.1:p.His3518=
XM_011509329.1:c.9109-499C>T XP_011507631.1:n.9109-499C>T
NM_002016.2:c.10554C>T MANE Select NP_002007.1:p.His3518=
Search 100 bp 5'
Search 100 bp 3'