Canonical Allele Identifier: CA420927281
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152277357G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152304881G>A , CM000663.2:g.152304881G>A GRCh38
NC_000001.10:g.152277357G>A , CM000663.1:g.152277357G>A GRCh37
NC_000001.9:g.150543981G>A NCBI36
NG_016190.1:g.25323C>T , LRG_1028:g.25323C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000368799.2:c.10005C>T MANE Select ENSP00000357789.1:p.Ser3335=
ENST00000368799.1:c.10005C>T ENSP00000357789.1:p.Ser3335=
NM_002016.1:c.10005C>T , LRG_1028t1:c.10005C>T NP_002007.1:p.Ser3335=
XM_011509329.1:c.9108+897C>T XP_011507631.1:n.9108+897C>T
NM_002016.2:c.10005C>T MANE Select NP_002007.1:p.Ser3335=