Canonical Allele Identifier: CA1105428

Gene: FLG

Linked Data

• dbSNP Id: rs1195638038
• ExAC: 1:152281292 G / A
• gnomAD v2: 1-152281292-G-A
• gnomAD v4: 1-152308816-G-A
• MyVariant Identifiers: chr1:g.152281292G>A (hg19) ; chr1:g.152281292_152281293delinsAC (hg19) ; chr1:g.152308816G>A (hg38) ; chr1:g.152308816_152308817delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152308816G>A , CM000663.2:g.152308816G>A	GRCh38
NC_000001.10:g.152281292G>A , CM000663.1:g.152281292G>A	GRCh37
NC_000001.9:g.150547916G>A	NCBI36
NG_016190.1:g.21388C>T , LRG_1028:g.21388C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.6070C>T MANE Select	ENSP00000357789.1:p.His2024Tyr
ENST00000368799.1:c.6070C>T	ENSP00000357789.1:p.His2024Tyr
NM_002016.1:c.6070C>T , LRG_1028t1:c.6070C>T	NP_002007.1:p.His2024Tyr
XM_011509329.1:c.6070C>T	XP_011507631.1:p.His2024Tyr
NM_002016.2:c.6070C>T MANE Select	NP_002007.1:p.His2024Tyr