Canonical Allele Identifier: CA1103445
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2384905
ClinVar RCV Id: RCV002675364
dbSNP Id: rs748621748

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304627T>C , CM000663.2:g.152304627T>C GRCh38
NC_000001.10:g.152277103T>C , CM000663.1:g.152277103T>C GRCh37
NC_000001.9:g.150543727T>C NCBI36
NG_016190.1:g.25577A>G , LRG_1028:g.25577A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10259A>G MANE Select ENSP00000357789.1:p.Asp3420Gly
ENST00000368799.1:c.10259A>G ENSP00000357789.1:p.Asp3420Gly
NM_002016.1:c.10259A>G , LRG_1028t1:c.10259A>G NP_002007.1:p.Asp3420Gly
XM_011509329.1:c.9109-794A>G XP_011507631.1:n.9109-794A>G
NM_002016.2:c.10259A>G MANE Select NP_002007.1:p.Asp3420Gly