Canonical Allele Identifier: CA420928815
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152280186A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307710A>G , CM000663.2:g.152307710A>G GRCh38
NC_000001.10:g.152280186A>G , CM000663.1:g.152280186A>G GRCh37
NC_000001.9:g.150546810A>G NCBI36
NG_016190.1:g.22494T>C , LRG_1028:g.22494T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7176T>C MANE Select ENSP00000357789.1:p.His2392=
ENST00000368799.1:c.7176T>C ENSP00000357789.1:p.His2392=
NM_002016.1:c.7176T>C , LRG_1028t1:c.7176T>C NP_002007.1:p.His2392=
XM_011509329.1:c.7176T>C XP_011507631.1:p.His2392=
NM_002016.2:c.7176T>C MANE Select NP_002007.1:p.His2392=