Canonical Allele Identifier: CA420926405
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1651799338
MyVariant Identifiers: chr1:g.152276883T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304407T>C , CM000663.2:g.152304407T>C GRCh38
NC_000001.10:g.152276883T>C , CM000663.1:g.152276883T>C GRCh37
NC_000001.9:g.150543507T>C NCBI36
NG_016190.1:g.25797A>G , LRG_1028:g.25797A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10479A>G MANE Select ENSP00000357789.1:p.Glu3493=
ENST00000368799.1:c.10479A>G ENSP00000357789.1:p.Glu3493=
NM_002016.1:c.10479A>G , LRG_1028t1:c.10479A>G NP_002007.1:p.Glu3493=
XM_011509329.1:c.9109-574A>G XP_011507631.1:n.9109-574A>G
NM_002016.2:c.10479A>G MANE Select NP_002007.1:p.Glu3493=