Canonical Allele Identifier: CA1106101
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2639287
ClinVar RCV Id: RCV003408981
dbSNP Id: rs766533034
ExAC: 1:152282658 G / A
gnomAD v2: 1-152282658-G-A
gnomAD v3: 1-152310182-G-A
gnomAD v4: 1-152310182-G-A
COSMIC: COSM1472652
MyVariant Identifiers: chr1:g.152282658G>A (hg19) chr1:g.152310182G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310182G>A , CM000663.2:g.152310182G>A GRCh38
NC_000001.10:g.152282658G>A , CM000663.1:g.152282658G>A GRCh37
NC_000001.9:g.150549282G>A NCBI36
NG_016190.1:g.20022C>T , LRG_1028:g.20022C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4704C>T MANE Select ENSP00000357789.1:p.Ala1568=
ENST00000368799.1:c.4704C>T ENSP00000357789.1:p.Ala1568=
NM_002016.1:c.4704C>T , LRG_1028t1:c.4704C>T NP_002007.1:p.Ala1568=
XM_011509329.1:c.4704C>T XP_011507631.1:p.Ala1568=
NM_002016.2:c.4704C>T MANE Select NP_002007.1:p.Ala1568=
Search 100 bp 5'
Search 100 bp 3'