Canonical Allele Identifier: CA1103479

Gene: FLG

Linked Data

• ClinVar Variation Id: 2639238
• ClinVar RCV Id: RCV003408932
• dbSNP Id: rs141655789
• ExAC: 1:152277158 G / A
• gnomAD v2: 1-152277158-G-A
• gnomAD v3: 1-152304682-G-A
• gnomAD v4: 1-152304682-G-A
• MyVariant Identifiers: chr1:g.152277158G>A (hg19) ; chr1:g.152304682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.152304682G>A , CM000663.2:g.152304682G>A	GRCh38
NC_000001.10:g.152277158G>A , CM000663.1:g.152277158G>A	GRCh37
NC_000001.9:g.150543782G>A	NCBI36
NG_016190.1:g.25522C>T , LRG_1028:g.25522C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368799.2:c.10204C>T MANE Select	ENSP00000357789.1:p.Arg3402Trp
ENST00000368799.1:c.10204C>T	ENSP00000357789.1:p.Arg3402Trp
NM_002016.1:c.10204C>T , LRG_1028t1:c.10204C>T	NP_002007.1:p.Arg3402Trp
XM_011509329.1:c.9109-849C>T	XP_011507631.1:n.9109-849C>T
NM_002016.2:c.10204C>T MANE Select	NP_002007.1:p.Arg3402Trp