Canonical Allele Identifier: CA30596895
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 429362
ClinVar RCV Id: RCV000493665
dbSNP Id: rs546871592

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152303251G>A , CM000663.2:g.152303251G>A GRCh38
NC_000001.10:g.152275727G>A , CM000663.1:g.152275727G>A GRCh37
NC_000001.9:g.150542351G>A NCBI36
NG_016190.1:g.26953C>T , LRG_1028:g.26953C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.11635C>T MANE Select ENSP00000357789.1:p.Arg3879Ter
ENST00000368799.1:c.11635C>T ENSP00000357789.1:p.Arg3879Ter
NM_002016.1:c.11635C>T , LRG_1028t1:c.11635C>T NP_002007.1:p.Arg3879Ter
XM_011509329.1:c.9691C>T XP_011507631.1:p.Arg3231Ter
NM_002016.2:c.11635C>T MANE Select NP_002007.1:p.Arg3879Ter