Canonical Allele Identifier: CA342049234
Gene: FLG HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307757C>G , CM000663.2:g.152307757C>G GRCh38
NC_000001.10:g.152280233C>G , CM000663.1:g.152280233C>G GRCh37
NC_000001.9:g.150546857C>G NCBI36
NG_016190.1:g.22447G>C , LRG_1028:g.22447G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7129G>C MANE Select ENSP00000357789.1:p.Asp2377His
ENST00000368799.1:c.7129G>C ENSP00000357789.1:p.Asp2377His
NM_002016.1:c.7129G>C , LRG_1028t1:c.7129G>C NP_002007.1:p.Asp2377His
XM_011509329.1:c.7129G>C XP_011507631.1:p.Asp2377His
NM_002016.2:c.7129G>C MANE Select NP_002007.1:p.Asp2377His