Canonical Allele Identifier: CA526662226

Gene: FLG

Linked Data

• ClinVar Variation Id: 504188
• ClinVar RCV Id: RCV000599268
• dbSNP Id: rs1246063885
• gnomAD v2: 1-152281671-GT-G
• gnomAD v3: 1-152309195-GT-G
• gnomAD v4: 1-152309195-GT-G
• MyVariant Identifiers: chr1:g.152281672del (hg19) ; chr1:g.152309196del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152309196del , CM000663.2:g.152309196del	GRCh38
NC_000001.10:g.152281672del , CM000663.1:g.152281672del	GRCh37
NC_000001.9:g.150548296del	NCBI36
NG_016190.1:g.21008del , LRG_1028:g.21008del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.5690del MANE Select	ENSP00000357789.1:p.His1897ProfsTer?
ENST00000368799.1:c.5690del	ENSP00000357789.1:p.His1897ProfsTer?
NM_002016.1:c.5690del , LRG_1028t1:c.5690del	NP_002007.1:p.His1897ProfsTer?
XM_011509329.1:c.5690del	XP_011507631.1:p.His1897ProfsTer?
NM_002016.2:c.5690del MANE Select	NP_002007.1:p.His1897ProfsTer?