Canonical Allele Identifier: CA1106674
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs753285760
ExAC: 1:152283917 C / T
gnomAD v2: 1-152283917-C-T
gnomAD v4: 1-152311441-C-T
COSMIC: COSM2206683
MyVariant Identifiers: chr1:g.152283917C>T (hg19) chr1:g.152311441C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311441C>T , CM000663.2:g.152311441C>T GRCh38
NC_000001.10:g.152283917C>T , CM000663.1:g.152283917C>T GRCh37
NC_000001.9:g.150550541C>T NCBI36
NG_016190.1:g.18763G>A , LRG_1028:g.18763G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3445G>A MANE Select ENSP00000357789.1:p.Ala1149Thr
ENST00000368799.1:c.3445G>A ENSP00000357789.1:p.Ala1149Thr
NM_002016.1:c.3445G>A , LRG_1028t1:c.3445G>A NP_002007.1:p.Ala1149Thr
XM_011509329.1:c.3445G>A XP_011507631.1:p.Ala1149Thr
NM_002016.2:c.3445G>A MANE Select NP_002007.1:p.Ala1149Thr
Search 100 bp 5'
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