Canonical Allele Identifier: CA342055571
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs770823601
gnomAD v4: 1-152308700-C-A
MyVariant Identifiers: chr1:g.152281176C>A (hg19) chr1:g.152308700C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308700C>A , CM000663.2:g.152308700C>A GRCh38
NC_000001.10:g.152281176C>A , CM000663.1:g.152281176C>A GRCh37
NC_000001.9:g.150547800C>A NCBI36
NG_016190.1:g.21504G>T , LRG_1028:g.21504G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6186G>T MANE Select ENSP00000357789.1:p.Gln2062His
ENST00000368799.1:c.6186G>T ENSP00000357789.1:p.Gln2062His
NM_002016.1:c.6186G>T , LRG_1028t1:c.6186G>T NP_002007.1:p.Gln2062His
XM_011509329.1:c.6186G>T XP_011507631.1:p.Gln2062His
NM_002016.2:c.6186G>T MANE Select NP_002007.1:p.Gln2062His
Search 100 bp 5'
Search 100 bp 3'