Canonical Allele Identifier: CA342049334
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1652083904
gnomAD v4: 1-152307807-T-C
MyVariant Identifiers: chr1:g.152280283T>C (hg19) chr1:g.152307807T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307807T>C , CM000663.2:g.152307807T>C GRCh38
NC_000001.10:g.152280283T>C , CM000663.1:g.152280283T>C GRCh37
NC_000001.9:g.150546907T>C NCBI36
NG_016190.1:g.22397A>G , LRG_1028:g.22397A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7079A>G MANE Select ENSP00000357789.1:p.His2360Arg
ENST00000368799.1:c.7079A>G ENSP00000357789.1:p.His2360Arg
NM_002016.1:c.7079A>G , LRG_1028t1:c.7079A>G NP_002007.1:p.His2360Arg
XM_011509329.1:c.7079A>G XP_011507631.1:p.His2360Arg
NM_002016.2:c.7079A>G MANE Select NP_002007.1:p.His2360Arg
Search 100 bp 5'
Search 100 bp 3'