Canonical Allele Identifier: CA1106675
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2248502
ClinVar RCV Id: RCV002748865
dbSNP Id: rs375070340
ExAC: 1:152283920 G / T
gnomAD v2: 1-152283920-G-T
gnomAD v3: 1-152311444-G-T
gnomAD v4: 1-152311444-G-T
MyVariant Identifiers: chr1:g.152283920G>T (hg19) chr1:g.152311444G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311444G>T , CM000663.2:g.152311444G>T GRCh38
NC_000001.10:g.152283920G>T , CM000663.1:g.152283920G>T GRCh37
NC_000001.9:g.150550544G>T NCBI36
NG_016190.1:g.18760C>A , LRG_1028:g.18760C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3442C>A MANE Select ENSP00000357789.1:p.Gln1148Lys
ENST00000368799.1:c.3442C>A ENSP00000357789.1:p.Gln1148Lys
NM_002016.1:c.3442C>A , LRG_1028t1:c.3442C>A NP_002007.1:p.Gln1148Lys
XM_011509329.1:c.3442C>A XP_011507631.1:p.Gln1148Lys
NM_002016.2:c.3442C>A MANE Select NP_002007.1:p.Gln1148Lys
Search 100 bp 5'
Search 100 bp 3'