Canonical Allele Identifier: CA1103667
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs35621145
ExAC: 1:152277554 G / T
gnomAD v2: 1-152277554-G-T
gnomAD v3: 1-152305078-G-T
gnomAD v4: 1-152305078-G-T
COSMIC: COSM2185013
MyVariant Identifiers: chr1:g.152277554G>T (hg19) chr1:g.152305078G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305078G>T , CM000663.2:g.152305078G>T GRCh38
NC_000001.10:g.152277554G>T , CM000663.1:g.152277554G>T GRCh37
NC_000001.9:g.150544178G>T NCBI36
NG_016190.1:g.25126C>A , LRG_1028:g.25126C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9808C>A MANE Select ENSP00000357789.1:p.Arg3270Ser
ENST00000368799.1:c.9808C>A ENSP00000357789.1:p.Arg3270Ser
NM_002016.1:c.9808C>A , LRG_1028t1:c.9808C>A NP_002007.1:p.Arg3270Ser
XM_011509329.1:c.9108+700C>A XP_011507631.1:n.9108+700C>A
NM_002016.2:c.9808C>A MANE Select NP_002007.1:p.Arg3270Ser
Search 100 bp 5'
Search 100 bp 3'