Canonical Allele Identifier: CA420930667
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152284913T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312437T>G , CM000663.2:g.152312437T>G GRCh38
NC_000001.10:g.152284913T>G , CM000663.1:g.152284913T>G GRCh37
NC_000001.9:g.150551537T>G NCBI36
NG_016190.1:g.17767A>C , LRG_1028:g.17767A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2449A>C MANE Select ENSP00000357789.1:p.Arg817=
ENST00000368799.1:c.2449A>C ENSP00000357789.1:p.Arg817=
NM_002016.1:c.2449A>C , LRG_1028t1:c.2449A>C NP_002007.1:p.Arg817=
XM_011509329.1:c.2449A>C XP_011507631.1:p.Arg817=
NM_002016.2:c.2449A>C MANE Select NP_002007.1:p.Arg817=