Canonical Allele Identifier: CA342048200
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 3095541
ClinVar RCV Id: RCV004386859
dbSNP Id: rs1219299454
gnomAD v2: 1-152280167-A-G
gnomAD v3: 1-152307691-A-G
gnomAD v4: 1-152307691-A-G
MyVariant Identifiers: chr1:g.152280167A>G (hg19) chr1:g.152307691A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307691A>G , CM000663.2:g.152307691A>G GRCh38
NC_000001.10:g.152280167A>G , CM000663.1:g.152280167A>G GRCh37
NC_000001.9:g.150546791A>G NCBI36
NG_016190.1:g.22513T>C , LRG_1028:g.22513T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7195T>C MANE Select ENSP00000357789.1:p.Ser2399Pro
ENST00000368799.1:c.7195T>C ENSP00000357789.1:p.Ser2399Pro
NM_002016.1:c.7195T>C , LRG_1028t1:c.7195T>C NP_002007.1:p.Ser2399Pro
XM_011509329.1:c.7195T>C XP_011507631.1:p.Ser2399Pro
NM_002016.2:c.7195T>C MANE Select NP_002007.1:p.Ser2399Pro
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