Canonical Allele Identifier: CA342049204
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152280220T>A (hg19) chr1:g.152307744T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307744T>A , CM000663.2:g.152307744T>A GRCh38
NC_000001.10:g.152280220T>A , CM000663.1:g.152280220T>A GRCh37
NC_000001.9:g.150546844T>A NCBI36
NG_016190.1:g.22460A>T , LRG_1028:g.22460A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7142A>T MANE Select ENSP00000357789.1:p.Gln2381Leu
ENST00000368799.1:c.7142A>T ENSP00000357789.1:p.Gln2381Leu
NM_002016.1:c.7142A>T , LRG_1028t1:c.7142A>T NP_002007.1:p.Gln2381Leu
XM_011509329.1:c.7142A>T XP_011507631.1:p.Gln2381Leu
NM_002016.2:c.7142A>T MANE Select NP_002007.1:p.Gln2381Leu
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