Canonical Allele Identifier: CA420926659
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152277381G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304905G>A , CM000663.2:g.152304905G>A GRCh38
NC_000001.10:g.152277381G>A , CM000663.1:g.152277381G>A GRCh37
NC_000001.9:g.150544005G>A NCBI36
NG_016190.1:g.25299C>T , LRG_1028:g.25299C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9981C>T MANE Select ENSP00000357789.1:p.Val3327=
ENST00000368799.1:c.9981C>T ENSP00000357789.1:p.Val3327=
NM_002016.1:c.9981C>T , LRG_1028t1:c.9981C>T NP_002007.1:p.Val3327=
XM_011509329.1:c.9108+873C>T XP_011507631.1:n.9108+873C>T
NM_002016.2:c.9981C>T MANE Select NP_002007.1:p.Val3327=
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