Canonical Allele Identifier: CA420927040
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152277522C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305046C>T , CM000663.2:g.152305046C>T GRCh38
NC_000001.10:g.152277522C>T , CM000663.1:g.152277522C>T GRCh37
NC_000001.9:g.150544146C>T NCBI36
NG_016190.1:g.25158G>A , LRG_1028:g.25158G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9840G>A MANE Select ENSP00000357789.1:p.Glu3280=
ENST00000368799.1:c.9840G>A ENSP00000357789.1:p.Glu3280=
NM_002016.1:c.9840G>A , LRG_1028t1:c.9840G>A NP_002007.1:p.Glu3280=
XM_011509329.1:c.9108+732G>A XP_011507631.1:n.9108+732G>A
NM_002016.2:c.9840G>A MANE Select NP_002007.1:p.Glu3280=