Canonical Allele Identifier: CA1107238
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs759178972
ExAC: 1:152285051 G / A
gnomAD v2: 1-152285051-G-A
gnomAD v4: 1-152312575-G-A
MyVariant Identifiers: chr1:g.152285051G>A (hg19) chr1:g.152312575G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312575G>A , CM000663.2:g.152312575G>A GRCh38
NC_000001.10:g.152285051G>A , CM000663.1:g.152285051G>A GRCh37
NC_000001.9:g.150551675G>A NCBI36
NG_016190.1:g.17629C>T , LRG_1028:g.17629C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2311C>T MANE Select ENSP00000357789.1:p.His771Tyr
ENST00000368799.1:c.2311C>T ENSP00000357789.1:p.His771Tyr
NM_002016.1:c.2311C>T , LRG_1028t1:c.2311C>T NP_002007.1:p.His771Tyr
XM_011509329.1:c.2311C>T XP_011507631.1:p.His771Tyr
NM_002016.2:c.2311C>T MANE Select NP_002007.1:p.His771Tyr
Search 100 bp 5'
Search 100 bp 3'