Canonical Allele Identifier: CA30556301
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095482
ClinVar RCV Id: RCV004386800
dbSNP Id: rs757561931
gnomAD v2: 1-152283452-C-G
gnomAD v3: 1-152310976-C-G
gnomAD v4: 1-152310976-C-G
MyVariant Identifiers: chr1:g.152283452C>G (hg19) chr1:g.152310976C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310976C>G , CM000663.2:g.152310976C>G GRCh38
NC_000001.10:g.152283452C>G , CM000663.1:g.152283452C>G GRCh37
NC_000001.9:g.150550076C>G NCBI36
NG_016190.1:g.19228G>C , LRG_1028:g.19228G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3910G>C MANE Select ENSP00000357789.1:p.Asp1304His
ENST00000368799.1:c.3910G>C ENSP00000357789.1:p.Asp1304His
NM_002016.1:c.3910G>C , LRG_1028t1:c.3910G>C NP_002007.1:p.Asp1304His
XM_011509329.1:c.3910G>C XP_011507631.1:p.Asp1304His
NM_002016.2:c.3910G>C MANE Select NP_002007.1:p.Asp1304His
Search 100 bp 5'
Search 100 bp 3'