Canonical Allele Identifier: CA342048245
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 2553675
ClinVar RCV Id: RCV003303972
dbSNP Id: rs1187742895
gnomAD v2: 1-152280174-G-C
gnomAD v4: 1-152307698-G-C
MyVariant Identifiers: chr1:g.152280174G>C (hg19) chr1:g.152307698G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307698G>C , CM000663.2:g.152307698G>C GRCh38
NC_000001.10:g.152280174G>C , CM000663.1:g.152280174G>C GRCh37
NC_000001.9:g.150546798G>C NCBI36
NG_016190.1:g.22506C>G , LRG_1028:g.22506C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7188C>G MANE Select ENSP00000357789.1:p.His2396Gln
ENST00000368799.1:c.7188C>G ENSP00000357789.1:p.His2396Gln
NM_002016.1:c.7188C>G , LRG_1028t1:c.7188C>G NP_002007.1:p.His2396Gln
XM_011509329.1:c.7188C>G XP_011507631.1:p.His2396Gln
NM_002016.2:c.7188C>G MANE Select NP_002007.1:p.His2396Gln
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