Canonical Allele Identifier: CA342054850
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs761082529
gnomAD v4: 1-152308629-C-G
MyVariant Identifiers: chr1:g.152281105C>G (hg19) chr1:g.152308629C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308629C>G , CM000663.2:g.152308629C>G GRCh38
NC_000001.10:g.152281105C>G , CM000663.1:g.152281105C>G GRCh37
NC_000001.9:g.150547729C>G NCBI36
NG_016190.1:g.21575G>C , LRG_1028:g.21575G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6257G>C MANE Select ENSP00000357789.1:p.Arg2086Pro
ENST00000368799.1:c.6257G>C ENSP00000357789.1:p.Arg2086Pro
NM_002016.1:c.6257G>C , LRG_1028t1:c.6257G>C NP_002007.1:p.Arg2086Pro
XM_011509329.1:c.6257G>C XP_011507631.1:p.Arg2086Pro
NM_002016.2:c.6257G>C MANE Select NP_002007.1:p.Arg2086Pro
Search 100 bp 5'
Search 100 bp 3'