Canonical Allele Identifier: CA420930379
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1462724443
gnomAD v2: 1-152283000-T-C
gnomAD v3: 1-152310524-T-C
gnomAD v4: 1-152310524-T-C
MyVariant Identifiers: chr1:g.152283000T>C (hg19) chr1:g.152310524T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310524T>C , CM000663.2:g.152310524T>C GRCh38
NC_000001.10:g.152283000T>C , CM000663.1:g.152283000T>C GRCh37
NC_000001.9:g.150549624T>C NCBI36
NG_016190.1:g.19680A>G , LRG_1028:g.19680A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4362A>G MANE Select ENSP00000357789.1:p.Thr1454=
ENST00000368799.1:c.4362A>G ENSP00000357789.1:p.Thr1454=
NM_002016.1:c.4362A>G , LRG_1028t1:c.4362A>G NP_002007.1:p.Thr1454=
XM_011509329.1:c.4362A>G XP_011507631.1:p.Thr1454=
NM_002016.2:c.4362A>G MANE Select NP_002007.1:p.Thr1454=
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