Canonical Allele Identifier: CA342082245
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152283779G>T (hg19) chr1:g.152311303G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152311303G>T , CM000663.2:g.152311303G>T GRCh38
NC_000001.10:g.152283779G>T , CM000663.1:g.152283779G>T GRCh37
NC_000001.9:g.150550403G>T NCBI36
NG_016190.1:g.18901C>A , LRG_1028:g.18901C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.3583C>A MANE Select ENSP00000357789.1:p.His1195Asn
ENST00000368799.1:c.3583C>A ENSP00000357789.1:p.His1195Asn
NM_002016.1:c.3583C>A , LRG_1028t1:c.3583C>A NP_002007.1:p.His1195Asn
XM_011509329.1:c.3583C>A XP_011507631.1:p.His1195Asn
NM_002016.2:c.3583C>A MANE Select NP_002007.1:p.His1195Asn
Search 100 bp 5'
Search 100 bp 3'