Canonical Allele Identifier: CA1103318
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs749166276
ExAC: 1:152276851 G / C
gnomAD v2: 1-152276851-G-C
gnomAD v4: 1-152304375-G-C
MyVariant Identifiers: chr1:g.152276851G>C (hg19) chr1:g.152304375G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304375G>C , CM000663.2:g.152304375G>C GRCh38
NC_000001.10:g.152276851G>C , CM000663.1:g.152276851G>C GRCh37
NC_000001.9:g.150543475G>C NCBI36
NG_016190.1:g.25829C>G , LRG_1028:g.25829C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10511C>G MANE Select ENSP00000357789.1:p.Ser3504Trp
ENST00000368799.1:c.10511C>G ENSP00000357789.1:p.Ser3504Trp
NM_002016.1:c.10511C>G , LRG_1028t1:c.10511C>G NP_002007.1:p.Ser3504Trp
XM_011509329.1:c.9109-542C>G XP_011507631.1:n.9109-542C>G
NM_002016.2:c.10511C>G MANE Select NP_002007.1:p.Ser3504Trp
Search 100 bp 5'
Search 100 bp 3'