Canonical Allele Identifier: CA342089431
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs1223941252
gnomAD v2: 1-152284889-C-A
gnomAD v4: 1-152312413-C-A
MyVariant Identifiers: chr1:g.152284889C>A (hg19) chr1:g.152312413C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152312413C>A , CM000663.2:g.152312413C>A GRCh38
NC_000001.10:g.152284889C>A , CM000663.1:g.152284889C>A GRCh37
NC_000001.9:g.150551513C>A NCBI36
NG_016190.1:g.17791G>T , LRG_1028:g.17791G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.2473G>T MANE Select ENSP00000357789.1:p.Ala825Ser
ENST00000368799.1:c.2473G>T ENSP00000357789.1:p.Ala825Ser
NM_002016.1:c.2473G>T , LRG_1028t1:c.2473G>T NP_002007.1:p.Ala825Ser
XM_011509329.1:c.2473G>T XP_011507631.1:p.Ala825Ser
NM_002016.2:c.2473G>T MANE Select NP_002007.1:p.Ala825Ser
Search 100 bp 5'
Search 100 bp 3'