Canonical Allele Identifier: CA30556839
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs974058013
gnomAD v4: 1-152311141-G-A
MyVariant Identifiers: chr1:g.152283617G>A (hg19) chr1:g.152311141G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311141G>A , CM000663.2:g.152311141G>A GRCh38
NC_000001.10:g.152283617G>A , CM000663.1:g.152283617G>A GRCh37
NC_000001.9:g.150550241G>A NCBI36
NG_016190.1:g.19063C>T , LRG_1028:g.19063C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3745C>T MANE Select ENSP00000357789.1:p.His1249Tyr
ENST00000368799.1:c.3745C>T ENSP00000357789.1:p.His1249Tyr
NM_002016.1:c.3745C>T , LRG_1028t1:c.3745C>T NP_002007.1:p.His1249Tyr
XM_011509329.1:c.3745C>T XP_011507631.1:p.His1249Tyr
NM_002016.2:c.3745C>T MANE Select NP_002007.1:p.His1249Tyr
Search 100 bp 5'
Search 100 bp 3'