Canonical Allele Identifier: CA420930613
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652509444
gnomAD v3: 1-152312384-G-T
gnomAD v4: 1-152312384-G-T
MyVariant Identifiers: chr1:g.152284860G>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312384G>T , CM000663.2:g.152312384G>T GRCh38
NC_000001.10:g.152284860G>T , CM000663.1:g.152284860G>T GRCh37
NC_000001.9:g.150551484G>T NCBI36
NG_016190.1:g.17820C>A , LRG_1028:g.17820C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2502C>A MANE Select ENSP00000357789.1:p.Ser834=
ENST00000368799.1:c.2502C>A ENSP00000357789.1:p.Ser834=
NM_002016.1:c.2502C>A , LRG_1028t1:c.2502C>A NP_002007.1:p.Ser834=
XM_011509329.1:c.2502C>A XP_011507631.1:p.Ser834=
NM_002016.2:c.2502C>A MANE Select NP_002007.1:p.Ser834=
Search 100 bp 5'
Search 100 bp 3'