Canonical Allele Identifier: CA342049219
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs750490380
gnomAD v2: 1-152280226-T-G
gnomAD v3: 1-152307750-T-G
gnomAD v4: 1-152307750-T-G
MyVariant Identifiers: chr1:g.152280226T>G (hg19) chr1:g.152307750T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152307750T>G , CM000663.2:g.152307750T>G GRCh38
NC_000001.10:g.152280226T>G , CM000663.1:g.152280226T>G GRCh37
NC_000001.9:g.150546850T>G NCBI36
NG_016190.1:g.22454A>C , LRG_1028:g.22454A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.7136A>C MANE Select ENSP00000357789.1:p.Asp2379Ala
ENST00000368799.1:c.7136A>C ENSP00000357789.1:p.Asp2379Ala
NM_002016.1:c.7136A>C , LRG_1028t1:c.7136A>C NP_002007.1:p.Asp2379Ala
XM_011509329.1:c.7136A>C XP_011507631.1:p.Asp2379Ala
NM_002016.2:c.7136A>C MANE Select NP_002007.1:p.Asp2379Ala
Search 100 bp 5'
Search 100 bp 3'