Canonical Allele Identifier: CA1107460
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2639314
ClinVar RCV Id: RCV003409008
dbSNP Id: rs749271421
ExAC: 1:152285546 C / T
gnomAD v2: 1-152285546-C-T
gnomAD v3: 1-152313070-C-T
gnomAD v4: 1-152313070-C-T
MyVariant Identifiers: chr1:g.152285546C>T (hg19) chr1:g.152313070C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152313070C>T , CM000663.2:g.152313070C>T GRCh38
NC_000001.10:g.152285546C>T , CM000663.1:g.152285546C>T GRCh37
NC_000001.9:g.150552170C>T NCBI36
NG_016190.1:g.17134G>A , LRG_1028:g.17134G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.1816G>A MANE Select ENSP00000357789.1:p.Gly606Arg
ENST00000368799.1:c.1816G>A ENSP00000357789.1:p.Gly606Arg
NM_002016.1:c.1816G>A , LRG_1028t1:c.1816G>A NP_002007.1:p.Gly606Arg
XM_011509329.1:c.1816G>A XP_011507631.1:p.Gly606Arg
NM_002016.2:c.1816G>A MANE Select NP_002007.1:p.Gly606Arg
Search 100 bp 5'
Search 100 bp 3'