Canonical Allele Identifier: CA342075293
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs918420067
gnomAD v2: 1-152277533-G-C
gnomAD v3: 1-152305057-G-C
gnomAD v4: 1-152305057-G-C
MyVariant Identifiers: chr1:g.152277533G>C (hg19) chr1:g.152305057G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152305057G>C , CM000663.2:g.152305057G>C GRCh38
NC_000001.10:g.152277533G>C , CM000663.1:g.152277533G>C GRCh37
NC_000001.9:g.150544157G>C NCBI36
NG_016190.1:g.25147C>G , LRG_1028:g.25147C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.9829C>G MANE Select ENSP00000357789.1:p.Arg3277Gly
ENST00000368799.1:c.9829C>G ENSP00000357789.1:p.Arg3277Gly
NM_002016.1:c.9829C>G , LRG_1028t1:c.9829C>G NP_002007.1:p.Arg3277Gly
XM_011509329.1:c.9108+721C>G XP_011507631.1:n.9108+721C>G
NM_002016.2:c.9829C>G MANE Select NP_002007.1:p.Arg3277Gly
Search 100 bp 5'
Search 100 bp 3'