Canonical Allele Identifier: CA1107841
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs146115338
ExAC: 1:152286387 C / A
gnomAD v2: 1-152286387-C-A
gnomAD v3: 1-152313911-C-A
gnomAD v4: 1-152313911-C-A
MyVariant Identifiers: chr1:g.152286387C>A (hg19) chr1:g.152313911C>A (hg38)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.975G>T MANE Select ENSP00000357789.1:p.Ala325=
ENST00000368799.1:c.975G>T ENSP00000357789.1:p.Ala325=
NM_002016.1:c.975G>T , LRG_1028t1:c.975G>T NP_002007.1:p.Ala325=
NR_103778.1:n.453C>A
XM_011509329.1:c.975G>T XP_011507631.1:p.Ala325=
NM_002016.2:c.975G>T MANE Select NP_002007.1:p.Ala325=
Search 100 bp 5'
Search 100 bp 3'