Canonical Allele Identifier: CA30551727
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095509
ClinVar RCV Id: RCV004386827
dbSNP Id: rs758157072

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309050C>A , CM000663.2:g.152309050C>A GRCh38
NC_000001.10:g.152281526C>A , CM000663.1:g.152281526C>A GRCh37
NC_000001.9:g.150548150C>A NCBI36
NG_016190.1:g.21154G>T , LRG_1028:g.21154G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5836G>T MANE Select ENSP00000357789.1:p.Ala1946Ser
ENST00000368799.1:c.5836G>T ENSP00000357789.1:p.Ala1946Ser
NM_002016.1:c.5836G>T , LRG_1028t1:c.5836G>T NP_002007.1:p.Ala1946Ser
XM_011509329.1:c.5836G>T XP_011507631.1:p.Ala1946Ser
NM_002016.2:c.5836G>T MANE Select NP_002007.1:p.Ala1946Ser