Canonical Allele Identifier: CA342068649
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152304296-C-G
MyVariant Identifiers: chr1:g.152276772C>G (hg19) chr1:g.152304296C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304296C>G , CM000663.2:g.152304296C>G GRCh38
NC_000001.10:g.152276772C>G , CM000663.1:g.152276772C>G GRCh37
NC_000001.9:g.150543396C>G NCBI36
NG_016190.1:g.25908G>C , LRG_1028:g.25908G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10590G>C MANE Select ENSP00000357789.1:p.Arg3530Ser
ENST00000368799.1:c.10590G>C ENSP00000357789.1:p.Arg3530Ser
NM_002016.1:c.10590G>C , LRG_1028t1:c.10590G>C NP_002007.1:p.Arg3530Ser
XM_011509329.1:c.9109-463G>C XP_011507631.1:n.9109-463G>C
NM_002016.2:c.10590G>C MANE Select NP_002007.1:p.Arg3530Ser
Search 100 bp 5'
Search 100 bp 3'