Canonical Allele Identifier: CA1106626
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095478
ClinVar RCV Id: RCV004386796
dbSNP Id: rs200502669
ExAC: 1:152283801 T / A
gnomAD v2: 1-152283801-T-A
gnomAD v3: 1-152311325-T-A
gnomAD v4: 1-152311325-T-A
MyVariant Identifiers: chr1:g.152283801T>A (hg19) chr1:g.152311325T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311325T>A , CM000663.2:g.152311325T>A GRCh38
NC_000001.10:g.152283801T>A , CM000663.1:g.152283801T>A GRCh37
NC_000001.9:g.150550425T>A NCBI36
NG_016190.1:g.18879A>T , LRG_1028:g.18879A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3561A>T MANE Select ENSP00000357789.1:p.Arg1187Ser
ENST00000368799.1:c.3561A>T ENSP00000357789.1:p.Arg1187Ser
NM_002016.1:c.3561A>T , LRG_1028t1:c.3561A>T NP_002007.1:p.Arg1187Ser
XM_011509329.1:c.3561A>T XP_011507631.1:p.Arg1187Ser
NM_002016.2:c.3561A>T MANE Select NP_002007.1:p.Arg1187Ser
Search 100 bp 5'
Search 100 bp 3'