Canonical Allele Identifier: CA420931079
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652421347
MyVariant Identifiers: chr1:g.152283936T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311460T>C , CM000663.2:g.152311460T>C GRCh38
NC_000001.10:g.152283936T>C , CM000663.1:g.152283936T>C GRCh37
NC_000001.9:g.150550560T>C NCBI36
NG_016190.1:g.18744A>G , LRG_1028:g.18744A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3426A>G MANE Select ENSP00000357789.1:p.Gln1142=
ENST00000368799.1:c.3426A>G ENSP00000357789.1:p.Gln1142=
NM_002016.1:c.3426A>G , LRG_1028t1:c.3426A>G NP_002007.1:p.Gln1142=
XM_011509329.1:c.3426A>G XP_011507631.1:p.Gln1142=
NM_002016.2:c.3426A>G MANE Select NP_002007.1:p.Gln1142=