Canonical Allele Identifier: CA1106236

Gene: FLG

Linked Data

• ClinVar Variation Id: 1241427
• ClinVar RCV Id: RCV001645172
• dbSNP Id: rs12732920
• ExAC: 1:152282952 A / G
• gnomAD v2: 1-152282952-A-G
• gnomAD v3: 1-152310476-A-G
• gnomAD v4: 1-152310476-A-G
• MyVariant Identifiers: chr1:g.152282952A>G (hg19) ; chr1:g.152310476A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152310476A>G , CM000663.2:g.152310476A>G	GRCh38
NC_000001.10:g.152282952A>G , CM000663.1:g.152282952A>G	GRCh37
NC_000001.9:g.150549576A>G	NCBI36
NG_016190.1:g.19728T>C , LRG_1028:g.19728T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.4410T>C MANE Select	ENSP00000357789.1:p.His1470=
ENST00000368799.1:c.4410T>C	ENSP00000357789.1:p.His1470=
NM_002016.1:c.4410T>C , LRG_1028t1:c.4410T>C	NP_002007.1:p.His1470=
XM_011509329.1:c.4410T>C	XP_011507631.1:p.His1470=
NM_002016.2:c.4410T>C MANE Select	NP_002007.1:p.His1470=