Canonical Allele Identifier: CA1103615

Gene: FLG

Linked Data

• ClinVar Variation Id: 279933
• ClinVar RCV Id: RCV000293549 ; RCV000991154
• dbSNP Id: rs149484917
• ExAC: 1:152277415 G / C
• gnomAD v2: 1-152277415-G-C
• gnomAD v3: 1-152304939-G-C
• gnomAD v4: 1-152304939-G-C
• COSMIC: COSM1158754
• MyVariant Identifiers: chr1:g.152277415G>C (hg19) ; chr1:g.152304939G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304939G>C , CM000663.2:g.152304939G>C	GRCh38
NC_000001.10:g.152277415G>C , CM000663.1:g.152277415G>C	GRCh37
NC_000001.9:g.150544039G>C	NCBI36
NG_016190.1:g.25265C>G , LRG_1028:g.25265C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000368799.2:c.9947C>G MANE Select	ENSP00000357789.1:p.Ser3316Ter
ENST00000368799.1:c.9947C>G	ENSP00000357789.1:p.Ser3316Ter
NM_002016.1:c.9947C>G , LRG_1028t1:c.9947C>G	NP_002007.1:p.Ser3316Ter
XM_011509329.1:c.9108+839C>G	XP_011507631.1:n.9108+839C>G
NM_002016.2:c.9947C>G MANE Select	NP_002007.1:p.Ser3316Ter