Canonical Allele Identifier: CA342083804
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2303778
ClinVar RCV Id: RCV002855898
dbSNP Id: rs1471803636
gnomAD v2: 1-152283985-T-G
gnomAD v4: 1-152311509-T-G
MyVariant Identifiers: chr1:g.152283985T>G (hg19) chr1:g.152311509T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311509T>G , CM000663.2:g.152311509T>G GRCh38
NC_000001.10:g.152283985T>G , CM000663.1:g.152283985T>G GRCh37
NC_000001.9:g.150550609T>G NCBI36
NG_016190.1:g.18695A>C , LRG_1028:g.18695A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3377A>C MANE Select ENSP00000357789.1:p.Gln1126Pro
ENST00000368799.1:c.3377A>C ENSP00000357789.1:p.Gln1126Pro
NM_002016.1:c.3377A>C , LRG_1028t1:c.3377A>C NP_002007.1:p.Gln1126Pro
XM_011509329.1:c.3377A>C XP_011507631.1:p.Gln1126Pro
NM_002016.2:c.3377A>C MANE Select NP_002007.1:p.Gln1126Pro
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