Canonical Allele Identifier: CA342073577
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1433626380
gnomAD v2: 1-152277316-T-A
gnomAD v4: 1-152304840-T-A
MyVariant Identifiers: chr1:g.152277316T>A (hg19) chr1:g.152304840T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304840T>A , CM000663.2:g.152304840T>A GRCh38
NC_000001.10:g.152277316T>A , CM000663.1:g.152277316T>A GRCh37
NC_000001.9:g.150543940T>A NCBI36
NG_016190.1:g.25364A>T , LRG_1028:g.25364A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.10046A>T MANE Select ENSP00000357789.1:p.Glu3349Val
ENST00000368799.1:c.10046A>T ENSP00000357789.1:p.Glu3349Val
NM_002016.1:c.10046A>T , LRG_1028t1:c.10046A>T NP_002007.1:p.Glu3349Val
XM_011509329.1:c.9108+938A>T XP_011507631.1:n.9108+938A>T
NM_002016.2:c.10046A>T MANE Select NP_002007.1:p.Glu3349Val
Search 100 bp 5'
Search 100 bp 3'