Canonical Allele Identifier: CA1103611
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2346194
ClinVar RCV Id: RCV002951677
dbSNP Id: rs138519433
ExAC: 1:152277406 G / A
gnomAD v2: 1-152277406-G-A
gnomAD v3: 1-152304930-G-A
gnomAD v4: 1-152304930-G-A
MyVariant Identifiers: chr1:g.152277406G>A (hg19) chr1:g.152304930G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304930G>A , CM000663.2:g.152304930G>A GRCh38
NC_000001.10:g.152277406G>A , CM000663.1:g.152277406G>A GRCh37
NC_000001.9:g.150544030G>A NCBI36
NG_016190.1:g.25274C>T , LRG_1028:g.25274C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9956C>T MANE Select ENSP00000357789.1:p.Pro3319Leu
ENST00000368799.1:c.9956C>T ENSP00000357789.1:p.Pro3319Leu
NM_002016.1:c.9956C>T , LRG_1028t1:c.9956C>T NP_002007.1:p.Pro3319Leu
XM_011509329.1:c.9108+848C>T XP_011507631.1:n.9108+848C>T
NM_002016.2:c.9956C>T MANE Select NP_002007.1:p.Pro3319Leu
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