Canonical Allele Identifier: CA342055713
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152281192T>G (hg19) chr1:g.152308716T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308716T>G , CM000663.2:g.152308716T>G GRCh38
NC_000001.10:g.152281192T>G , CM000663.1:g.152281192T>G GRCh37
NC_000001.9:g.150547816T>G NCBI36
NG_016190.1:g.21488A>C , LRG_1028:g.21488A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6170A>C MANE Select ENSP00000357789.1:p.Gln2057Pro
ENST00000368799.1:c.6170A>C ENSP00000357789.1:p.Gln2057Pro
NM_002016.1:c.6170A>C , LRG_1028t1:c.6170A>C NP_002007.1:p.Gln2057Pro
XM_011509329.1:c.6170A>C XP_011507631.1:p.Gln2057Pro
NM_002016.2:c.6170A>C MANE Select NP_002007.1:p.Gln2057Pro
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