Canonical Allele Identifier: CA1106400
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095483
ClinVar RCV Id: RCV004386801
dbSNP Id: rs772196473
ExAC: 1:152283346 T / C
gnomAD v2: 1-152283346-T-C
gnomAD v3: 1-152310870-T-C
gnomAD v4: 1-152310870-T-C
COSMIC: COSM4221467
MyVariant Identifiers: chr1:g.152283346T>C (hg19) chr1:g.152310870T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310870T>C , CM000663.2:g.152310870T>C GRCh38
NC_000001.10:g.152283346T>C , CM000663.1:g.152283346T>C GRCh37
NC_000001.9:g.150549970T>C NCBI36
NG_016190.1:g.19334A>G , LRG_1028:g.19334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4016A>G MANE Select ENSP00000357789.1:p.His1339Arg
ENST00000368799.1:c.4016A>G ENSP00000357789.1:p.His1339Arg
NM_002016.1:c.4016A>G , LRG_1028t1:c.4016A>G NP_002007.1:p.His1339Arg
XM_011509329.1:c.4016A>G XP_011507631.1:p.His1339Arg
NM_002016.2:c.4016A>G MANE Select NP_002007.1:p.His1339Arg
Search 100 bp 5'
Search 100 bp 3'