Canonical Allele Identifier: CA1106651
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1298018
ClinVar RCV Id: RCV001725525 RCV003339724
dbSNP Id: rs58001094
ExAC: 1:152283862 G / C
gnomAD v2: 1-152283862-G-C
gnomAD v3: 1-152311386-G-C
gnomAD v4: 1-152311386-G-C
MyVariant Identifiers: chr1:g.152283862G>C (hg19) chr1:g.152311386G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311386G>C , CM000663.2:g.152311386G>C GRCh38
NC_000001.10:g.152283862G>C , CM000663.1:g.152283862G>C GRCh37
NC_000001.9:g.150550486G>C NCBI36
NG_016190.1:g.18818C>G , LRG_1028:g.18818C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3500C>G MANE Select ENSP00000357789.1:p.Ala1167Gly
ENST00000368799.1:c.3500C>G ENSP00000357789.1:p.Ala1167Gly
NM_002016.1:c.3500C>G , LRG_1028t1:c.3500C>G NP_002007.1:p.Ala1167Gly
XM_011509329.1:c.3500C>G XP_011507631.1:p.Ala1167Gly
NM_002016.2:c.3500C>G MANE Select NP_002007.1:p.Ala1167Gly
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Search 100 bp 3'