Canonical Allele Identifier: CA1103476

Gene: FLG

Linked Data

• ClinVar Variation Id: 2639236
• ClinVar RCV Id: RCV003408930
• dbSNP Id: rs770361839
• ExAC: 1:152277156 C / G
• gnomAD v2: 1-152277156-C-G
• gnomAD v3: 1-152304680-C-G
• gnomAD v4: 1-152304680-C-G
• COSMIC: COSM4439584
• MyVariant Identifiers: chr1:g.152277156C>G (hg19) ; chr1:g.152304680C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304680C>G , CM000663.2:g.152304680C>G	GRCh38
NC_000001.10:g.152277156C>G , CM000663.1:g.152277156C>G	GRCh37
NC_000001.9:g.150543780C>G	NCBI36
NG_016190.1:g.25524G>C , LRG_1028:g.25524G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.10206G>C MANE Select	ENSP00000357789.1:p.Arg3402=
ENST00000368799.1:c.10206G>C	ENSP00000357789.1:p.Arg3402=
NM_002016.1:c.10206G>C , LRG_1028t1:c.10206G>C	NP_002007.1:p.Arg3402=
XM_011509329.1:c.9109-847G>C	XP_011507631.1:n.9109-847G>C
NM_002016.2:c.10206G>C MANE Select	NP_002007.1:p.Arg3402=