Canonical Allele Identifier: CA342082853
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095477
ClinVar RCV Id: RCV004386795
dbSNP Id: rs766224121
gnomAD v2: 1-152283858-G-T
gnomAD v4: 1-152311382-G-T
MyVariant Identifiers: chr1:g.152283858G>T (hg19) chr1:g.152311382G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311382G>T , CM000663.2:g.152311382G>T GRCh38
NC_000001.10:g.152283858G>T , CM000663.1:g.152283858G>T GRCh37
NC_000001.9:g.150550482G>T NCBI36
NG_016190.1:g.18822C>A , LRG_1028:g.18822C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3504C>A MANE Select ENSP00000357789.1:p.His1168Gln
ENST00000368799.1:c.3504C>A ENSP00000357789.1:p.His1168Gln
NM_002016.1:c.3504C>A , LRG_1028t1:c.3504C>A NP_002007.1:p.His1168Gln
XM_011509329.1:c.3504C>A XP_011507631.1:p.His1168Gln
NM_002016.2:c.3504C>A MANE Select NP_002007.1:p.His1168Gln
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