Canonical Allele Identifier: CA1106651

Gene: FLG

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)

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