Canonical Allele Identifier: CA1107119
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs536394626
ExAC: 1:152284821 T / A
gnomAD v2: 1-152284821-T-A
gnomAD v3: 1-152312345-T-A
gnomAD v4: 1-152312345-T-A
MyVariant Identifiers: chr1:g.152284821T>A (hg19) chr1:g.152284821_152284822delinsAG (hg19) chr1:g.152312345T>A (hg38) chr1:g.152312345_152312346delinsAG (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312345T>A , CM000663.2:g.152312345T>A GRCh38
NC_000001.10:g.152284821T>A , CM000663.1:g.152284821T>A GRCh37
NC_000001.9:g.150551445T>A NCBI36
NG_016190.1:g.17859A>T , LRG_1028:g.17859A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2541A>T MANE Select ENSP00000357789.1:p.Ser847=
ENST00000368799.1:c.2541A>T ENSP00000357789.1:p.Ser847=
NM_002016.1:c.2541A>T , LRG_1028t1:c.2541A>T NP_002007.1:p.Ser847=
XM_011509329.1:c.2541A>T XP_011507631.1:p.Ser847=
NM_002016.2:c.2541A>T MANE Select NP_002007.1:p.Ser847=
Search 100 bp 5'
Search 100 bp 3'