Canonical Allele Identifier: CA342075284
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs550176166
gnomAD v2: 1-152277532-C-G
gnomAD v3: 1-152305056-C-G
gnomAD v4: 1-152305056-C-G
MyVariant Identifiers: chr1:g.152277532C>G (hg19) chr1:g.152305056C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305056C>G , CM000663.2:g.152305056C>G GRCh38
NC_000001.10:g.152277532C>G , CM000663.1:g.152277532C>G GRCh37
NC_000001.9:g.150544156C>G NCBI36
NG_016190.1:g.25148G>C , LRG_1028:g.25148G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9830G>C MANE Select ENSP00000357789.1:p.Arg3277Pro
ENST00000368799.1:c.9830G>C ENSP00000357789.1:p.Arg3277Pro
NM_002016.1:c.9830G>C , LRG_1028t1:c.9830G>C NP_002007.1:p.Arg3277Pro
XM_011509329.1:c.9108+722G>C XP_011507631.1:n.9108+722G>C
NM_002016.2:c.9830G>C MANE Select NP_002007.1:p.Arg3277Pro
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