Canonical Allele Identifier: CA1105617
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1175489
ClinVar RCV Id: RCV001530664
dbSNP Id: rs561463895
ExAC: 1:152281625 T / G
gnomAD v2: 1-152281625-T-G
gnomAD v3: 1-152309149-T-G
gnomAD v4: 1-152309149-T-G
MyVariant Identifiers: chr1:g.152281625T>G (hg19) chr1:g.152309149T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309149T>G , CM000663.2:g.152309149T>G GRCh38
NC_000001.10:g.152281625T>G , CM000663.1:g.152281625T>G GRCh37
NC_000001.9:g.150548249T>G NCBI36
NG_016190.1:g.21055A>C , LRG_1028:g.21055A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5737A>C MANE Select ENSP00000357789.1:p.Asn1913His
ENST00000368799.1:c.5737A>C ENSP00000357789.1:p.Asn1913His
NM_002016.1:c.5737A>C , LRG_1028t1:c.5737A>C NP_002007.1:p.Asn1913His
XM_011509329.1:c.5737A>C XP_011507631.1:p.Asn1913His
NM_002016.2:c.5737A>C MANE Select NP_002007.1:p.Asn1913His
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