Canonical Allele Identifier: CA342080860
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs149757536
gnomAD v2: 1-152283529-C-A
gnomAD v4: 1-152311053-C-A
MyVariant Identifiers: chr1:g.152283529C>A (hg19) chr1:g.152311053C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311053C>A , CM000663.2:g.152311053C>A GRCh38
NC_000001.10:g.152283529C>A , CM000663.1:g.152283529C>A GRCh37
NC_000001.9:g.150550153C>A NCBI36
NG_016190.1:g.19151G>T , LRG_1028:g.19151G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.3833G>T MANE Select ENSP00000357789.1:p.Arg1278Ile
ENST00000368799.1:c.3833G>T ENSP00000357789.1:p.Arg1278Ile
NM_002016.1:c.3833G>T , LRG_1028t1:c.3833G>T NP_002007.1:p.Arg1278Ile
XM_011509329.1:c.3833G>T XP_011507631.1:p.Arg1278Ile
NM_002016.2:c.3833G>T MANE Select NP_002007.1:p.Arg1278Ile
Search 100 bp 5'
Search 100 bp 3'