Canonical Allele Identifier: CA420931981
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs146115338
gnomAD v3: 1-152313911-C-G
gnomAD v4: 1-152313911-C-G
MyVariant Identifiers: chr1:g.152286387C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313911C>G , CM000663.2:g.152313911C>G GRCh38
NC_000001.10:g.152286387C>G , CM000663.1:g.152286387C>G GRCh37
NC_000001.9:g.150553011C>G NCBI36
NG_016190.1:g.16293G>C , LRG_1028:g.16293G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.975G>C MANE Select ENSP00000357789.1:p.Ala325=
ENST00000368799.1:c.975G>C ENSP00000357789.1:p.Ala325=
NM_002016.1:c.975G>C , LRG_1028t1:c.975G>C NP_002007.1:p.Ala325=
NR_103778.1:n.453C>G
XM_011509329.1:c.975G>C XP_011507631.1:p.Ala325=
NM_002016.2:c.975G>C MANE Select NP_002007.1:p.Ala325=
Search 100 bp 5'
Search 100 bp 3'