Canonical Allele Identifier: CA342082594
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1485415541
gnomAD v3: 1-152311344-T-C
gnomAD v4: 1-152311344-T-C
MyVariant Identifiers: chr1:g.152283820T>C (hg19) chr1:g.152311344T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311344T>C , CM000663.2:g.152311344T>C GRCh38
NC_000001.10:g.152283820T>C , CM000663.1:g.152283820T>C GRCh37
NC_000001.9:g.150550444T>C NCBI36
NG_016190.1:g.18860A>G , LRG_1028:g.18860A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3542A>G MANE Select ENSP00000357789.1:p.His1181Arg
ENST00000368799.1:c.3542A>G ENSP00000357789.1:p.His1181Arg
NM_002016.1:c.3542A>G , LRG_1028t1:c.3542A>G NP_002007.1:p.His1181Arg
XM_011509329.1:c.3542A>G XP_011507631.1:p.His1181Arg
NM_002016.2:c.3542A>G MANE Select NP_002007.1:p.His1181Arg
Search 100 bp 5'
Search 100 bp 3'