Canonical Allele Identifier: CA230673
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 126848
ClinVar RCV Id: RCV000114742 RCV000490507
dbSNP Id: rs146466242
ExAC: 1:152275298 T / A
gnomAD v2: 1-152275298-T-A
gnomAD v3: 1-152302822-T-A
gnomAD v4: 1-152302822-T-A
MyVariant Identifiers: chr1:g.152275298T>A (hg19) chr1:g.152302822T>A (hg38)
PubMed: PMID:19663875 PMID:22407025
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152302822T>A , CM000663.2:g.152302822T>A GRCh38
NC_000001.10:g.152275298T>A , CM000663.1:g.152275298T>A GRCh37
NC_000001.9:g.150541922T>A NCBI36
NG_016190.1:g.27382A>T , LRG_1028:g.27382A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.12064A>T MANE Select ENSP00000357789.1:p.Lys4022Ter
ENST00000368799.1:c.12064A>T ENSP00000357789.1:p.Lys4022Ter
NM_002016.1:c.12064A>T , LRG_1028t1:c.12064A>T NP_002007.1:p.Lys4022Ter
XM_011509329.1:c.10120A>T XP_011507631.1:p.Lys3374Ter
NM_002016.2:c.12064A>T MANE Select NP_002007.1:p.Lys4022Ter
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