Canonical Allele Identifier: CA1104939
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2331291
ClinVar RCV Id: RCV002940221
dbSNP Id: rs564611202
ExAC: 1:152280362 G / A
gnomAD v2: 1-152280362-G-A
gnomAD v3: 1-152307886-G-A
gnomAD v4: 1-152307886-G-A
MyVariant Identifiers: chr1:g.152280362G>A (hg19) chr1:g.152307886G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307886G>A , CM000663.2:g.152307886G>A GRCh38
NC_000001.10:g.152280362G>A , CM000663.1:g.152280362G>A GRCh37
NC_000001.9:g.150546986G>A NCBI36
NG_016190.1:g.22318C>T , LRG_1028:g.22318C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7000C>T MANE Select ENSP00000357789.1:p.His2334Tyr
ENST00000368799.1:c.7000C>T ENSP00000357789.1:p.His2334Tyr
NM_002016.1:c.7000C>T , LRG_1028t1:c.7000C>T NP_002007.1:p.His2334Tyr
XM_011509329.1:c.7000C>T XP_011507631.1:p.His2334Tyr
NM_002016.2:c.7000C>T MANE Select NP_002007.1:p.His2334Tyr
Search 100 bp 5'
Search 100 bp 3'