Canonical Allele Identifier: CA420926858
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1301948709
gnomAD v2: 1-152277024-C-T
gnomAD v4: 1-152304548-C-T
MyVariant Identifiers: chr1:g.152277024C>T (hg19) chr1:g.152304548C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304548C>T , CM000663.2:g.152304548C>T GRCh38
NC_000001.10:g.152277024C>T , CM000663.1:g.152277024C>T GRCh37
NC_000001.9:g.150543648C>T NCBI36
NG_016190.1:g.25656G>A , LRG_1028:g.25656G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10338G>A MANE Select ENSP00000357789.1:p.Gln3446=
ENST00000368799.1:c.10338G>A ENSP00000357789.1:p.Gln3446=
NM_002016.1:c.10338G>A , LRG_1028t1:c.10338G>A NP_002007.1:p.Gln3446=
XM_011509329.1:c.9109-715G>A XP_011507631.1:n.9109-715G>A
NM_002016.2:c.10338G>A MANE Select NP_002007.1:p.Gln3446=
Search 100 bp 5'
Search 100 bp 3'