Canonical Allele Identifier: CA1105616
Gene: FLG HGNC NCBI

Linked Data

ClinVar Variation Id: 1204803
ClinVar RCV Id: RCV001571260
dbSNP Id: rs541394374

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152309148T>C , CM000663.2:g.152309148T>C GRCh38
NC_000001.10:g.152281624T>C , CM000663.1:g.152281624T>C GRCh37
NC_000001.9:g.150548248T>C NCBI36
NG_016190.1:g.21056A>G , LRG_1028:g.21056A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.5738A>G MANE Select ENSP00000357789.1:p.Asn1913Ser
ENST00000368799.1:c.5738A>G ENSP00000357789.1:p.Asn1913Ser
NM_002016.1:c.5738A>G , LRG_1028t1:c.5738A>G NP_002007.1:p.Asn1913Ser
XM_011509329.1:c.5738A>G XP_011507631.1:p.Asn1913Ser
NM_002016.2:c.5738A>G MANE Select NP_002007.1:p.Asn1913Ser