Canonical Allele Identifier: CA342089326
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1426049443
gnomAD v2: 1-152284872-C-A
MyVariant Identifiers: chr1:g.152284872C>A (hg19) chr1:g.152312396C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312396C>A , CM000663.2:g.152312396C>A GRCh38
NC_000001.10:g.152284872C>A , CM000663.1:g.152284872C>A GRCh37
NC_000001.9:g.150551496C>A NCBI36
NG_016190.1:g.17808G>T , LRG_1028:g.17808G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2490G>T MANE Select ENSP00000357789.1:p.Arg830Ser
ENST00000368799.1:c.2490G>T ENSP00000357789.1:p.Arg830Ser
NM_002016.1:c.2490G>T , LRG_1028t1:c.2490G>T NP_002007.1:p.Arg830Ser
XM_011509329.1:c.2490G>T XP_011507631.1:p.Arg830Ser
NM_002016.2:c.2490G>T MANE Select NP_002007.1:p.Arg830Ser
Search 100 bp 5'
Search 100 bp 3'