Canonical Allele Identifier: CA1104936
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2238215
ClinVar RCV Id: RCV002729114
dbSNP Id: rs754701219
ExAC: 1:152280356 G / C
gnomAD v2: 1-152280356-G-C
gnomAD v4: 1-152307880-G-C
MyVariant Identifiers: chr1:g.152280356G>C (hg19) chr1:g.152307880G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307880G>C , CM000663.2:g.152307880G>C GRCh38
NC_000001.10:g.152280356G>C , CM000663.1:g.152280356G>C GRCh37
NC_000001.9:g.150546980G>C NCBI36
NG_016190.1:g.22324C>G , LRG_1028:g.22324C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7006C>G MANE Select ENSP00000357789.1:p.Gln2336Glu
ENST00000368799.1:c.7006C>G ENSP00000357789.1:p.Gln2336Glu
NM_002016.1:c.7006C>G , LRG_1028t1:c.7006C>G NP_002007.1:p.Gln2336Glu
XM_011509329.1:c.7006C>G XP_011507631.1:p.Gln2336Glu
NM_002016.2:c.7006C>G MANE Select NP_002007.1:p.Gln2336Glu
Search 100 bp 5'
Search 100 bp 3'