Canonical Allele Identifier: CA420929180
Gene: FLG HGNC NCBI

Linked Data

gnomAD v3: 1-152308736-A-G
gnomAD v4: 1-152308736-A-G
MyVariant Identifiers: chr1:g.152281212A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308736A>G , CM000663.2:g.152308736A>G GRCh38
NC_000001.10:g.152281212A>G , CM000663.1:g.152281212A>G GRCh37
NC_000001.9:g.150547836A>G NCBI36
NG_016190.1:g.21468T>C , LRG_1028:g.21468T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6150T>C MANE Select ENSP00000357789.1:p.His2050=
ENST00000368799.1:c.6150T>C ENSP00000357789.1:p.His2050=
NM_002016.1:c.6150T>C , LRG_1028t1:c.6150T>C NP_002007.1:p.His2050=
XM_011509329.1:c.6150T>C XP_011507631.1:p.His2050=
NM_002016.2:c.6150T>C MANE Select NP_002007.1:p.His2050=
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