Canonical Allele Identifier: CA342048223
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs71625201
gnomAD v2: 1-152280170-C-A
gnomAD v4: 1-152307694-C-A
MyVariant Identifiers: chr1:g.152280170C>A (hg19) chr1:g.152307694C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307694C>A , CM000663.2:g.152307694C>A GRCh38
NC_000001.10:g.152280170C>A , CM000663.1:g.152280170C>A GRCh37
NC_000001.9:g.150546794C>A NCBI36
NG_016190.1:g.22510G>T , LRG_1028:g.22510G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7192G>T MANE Select ENSP00000357789.1:p.Glu2398Ter
ENST00000368799.1:c.7192G>T ENSP00000357789.1:p.Glu2398Ter
NM_002016.1:c.7192G>T , LRG_1028t1:c.7192G>T NP_002007.1:p.Glu2398Ter
XM_011509329.1:c.7192G>T XP_011507631.1:p.Glu2398Ter
NM_002016.2:c.7192G>T MANE Select NP_002007.1:p.Glu2398Ter
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