Canonical Allele Identifier: CA342047832
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1050112
ClinVar RCV Id: RCV001357035
dbSNP Id: rs766035407
gnomAD v2: 1-152280119-G-T
gnomAD v3: 1-152307643-G-T
gnomAD v4: 1-152307643-G-T
MyVariant Identifiers: chr1:g.152280119G>T (hg19) chr1:g.152307643G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307643G>T , CM000663.2:g.152307643G>T GRCh38
NC_000001.10:g.152280119G>T , CM000663.1:g.152280119G>T GRCh37
NC_000001.9:g.150546743G>T NCBI36
NG_016190.1:g.22561C>A , LRG_1028:g.22561C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7243C>A MANE Select ENSP00000357789.1:p.Leu2415Ile
ENST00000368799.1:c.7243C>A ENSP00000357789.1:p.Leu2415Ile
NM_002016.1:c.7243C>A , LRG_1028t1:c.7243C>A NP_002007.1:p.Leu2415Ile
XM_011509329.1:c.7243C>A XP_011507631.1:p.Leu2415Ile
NM_002016.2:c.7243C>A MANE Select NP_002007.1:p.Leu2415Ile
Search 100 bp 5'
Search 100 bp 3'