Canonical Allele Identifier: CA342079683
Gene: FLG HGNC NCBI

Linked Data

gnomAD v4: 1-152310879-G-A
COSMIC: COSM260953
MyVariant Identifiers: chr1:g.152283355G>A (hg19) chr1:g.152310879G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310879G>A , CM000663.2:g.152310879G>A GRCh38
NC_000001.10:g.152283355G>A , CM000663.1:g.152283355G>A GRCh37
NC_000001.9:g.150549979G>A NCBI36
NG_016190.1:g.19325C>T , LRG_1028:g.19325C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.4007C>T MANE Select ENSP00000357789.1:p.Ser1336Phe
ENST00000368799.1:c.4007C>T ENSP00000357789.1:p.Ser1336Phe
NM_002016.1:c.4007C>T , LRG_1028t1:c.4007C>T NP_002007.1:p.Ser1336Phe
XM_011509329.1:c.4007C>T XP_011507631.1:p.Ser1336Phe
NM_002016.2:c.4007C>T MANE Select NP_002007.1:p.Ser1336Phe
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