Canonical Allele Identifier: CA342070354
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1368328760
gnomAD v3: 1-152304507-G-A
gnomAD v4: 1-152304507-G-A
COSMIC: COSM6121299
MyVariant Identifiers: chr1:g.152276983G>A (hg19) chr1:g.152304507G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304507G>A , CM000663.2:g.152304507G>A GRCh38
NC_000001.10:g.152276983G>A , CM000663.1:g.152276983G>A GRCh37
NC_000001.9:g.150543607G>A NCBI36
NG_016190.1:g.25697C>T , LRG_1028:g.25697C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10379C>T MANE Select ENSP00000357789.1:p.Ser3460Leu
ENST00000368799.1:c.10379C>T ENSP00000357789.1:p.Ser3460Leu
NM_002016.1:c.10379C>T , LRG_1028t1:c.10379C>T NP_002007.1:p.Ser3460Leu
XM_011509329.1:c.9109-674C>T XP_011507631.1:n.9109-674C>T
NM_002016.2:c.10379C>T MANE Select NP_002007.1:p.Ser3460Leu
Search 100 bp 5'
Search 100 bp 3'