Canonical Allele Identifier: CA1103504
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs567919288
ExAC: 1:152277203 G / T
gnomAD v2: 1-152277203-G-T
gnomAD v3: 1-152304727-G-T
gnomAD v4: 1-152304727-G-T
MyVariant Identifiers: chr1:g.152277203G>T (hg19) chr1:g.152304727G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304727G>T , CM000663.2:g.152304727G>T GRCh38
NC_000001.10:g.152277203G>T , CM000663.1:g.152277203G>T GRCh37
NC_000001.9:g.150543827G>T NCBI36
NG_016190.1:g.25477C>A , LRG_1028:g.25477C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10159C>A MANE Select ENSP00000357789.1:p.Leu3387Ile
ENST00000368799.1:c.10159C>A ENSP00000357789.1:p.Leu3387Ile
NM_002016.1:c.10159C>A , LRG_1028t1:c.10159C>A NP_002007.1:p.Leu3387Ile
XM_011509329.1:c.9109-894C>A XP_011507631.1:n.9109-894C>A
NM_002016.2:c.10159C>A MANE Select NP_002007.1:p.Leu3387Ile
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