Canonical Allele Identifier: CA1104869
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs781024573
ExAC: 1:152280181 T / A
gnomAD v2: 1-152280181-T-A
gnomAD v4: 1-152307705-T-A
MyVariant Identifiers: chr1:g.152280181T>A (hg19) chr1:g.152307705T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307705T>A , CM000663.2:g.152307705T>A GRCh38
NC_000001.10:g.152280181T>A , CM000663.1:g.152280181T>A GRCh37
NC_000001.9:g.150546805T>A NCBI36
NG_016190.1:g.22499A>T , LRG_1028:g.22499A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7181A>T MANE Select ENSP00000357789.1:p.Gln2394Leu
ENST00000368799.1:c.7181A>T ENSP00000357789.1:p.Gln2394Leu
NM_002016.1:c.7181A>T , LRG_1028t1:c.7181A>T NP_002007.1:p.Gln2394Leu
XM_011509329.1:c.7181A>T XP_011507631.1:p.Gln2394Leu
NM_002016.2:c.7181A>T MANE Select NP_002007.1:p.Gln2394Leu
Search 100 bp 5'
Search 100 bp 3'