Canonical Allele Identifier: CA342055650
Gene: FLG HGNC NCBI

Linked Data

dbSNP Id: rs775214195
gnomAD v4: 1-152308711-C-G
MyVariant Identifiers: chr1:g.152281187C>G (hg19) chr1:g.152308711C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152308711C>G , CM000663.2:g.152308711C>G GRCh38
NC_000001.10:g.152281187C>G , CM000663.1:g.152281187C>G GRCh37
NC_000001.9:g.150547811C>G NCBI36
NG_016190.1:g.21493G>C , LRG_1028:g.21493G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.6175G>C MANE Select ENSP00000357789.1:p.Val2059Leu
ENST00000368799.1:c.6175G>C ENSP00000357789.1:p.Val2059Leu
NM_002016.1:c.6175G>C , LRG_1028t1:c.6175G>C NP_002007.1:p.Val2059Leu
XM_011509329.1:c.6175G>C XP_011507631.1:p.Val2059Leu
NM_002016.2:c.6175G>C MANE Select NP_002007.1:p.Val2059Leu
Search 100 bp 5'
Search 100 bp 3'