Canonical Allele Identifier: CA30555077
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs955282900
gnomAD v4: 1-152310691-C-T
MyVariant Identifiers: chr1:g.152283167C>T (hg19) chr1:g.152310691C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310691C>T , CM000663.2:g.152310691C>T GRCh38
NC_000001.10:g.152283167C>T , CM000663.1:g.152283167C>T GRCh37
NC_000001.9:g.150549791C>T NCBI36
NG_016190.1:g.19513G>A , LRG_1028:g.19513G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.4195G>A MANE Select ENSP00000357789.1:p.Glu1399Lys
ENST00000368799.1:c.4195G>A ENSP00000357789.1:p.Glu1399Lys
NM_002016.1:c.4195G>A , LRG_1028t1:c.4195G>A NP_002007.1:p.Glu1399Lys
XM_011509329.1:c.4195G>A XP_011507631.1:p.Glu1399Lys
NM_002016.2:c.4195G>A MANE Select NP_002007.1:p.Glu1399Lys
Search 100 bp 5'
Search 100 bp 3'