Canonical Allele Identifier: CA342078822
Gene: FLG HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.152283276C>G (hg19) chr1:g.152310800C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.152310800C>G , CM000663.2:g.152310800C>G GRCh38
NC_000001.10:g.152283276C>G , CM000663.1:g.152283276C>G GRCh37
NC_000001.9:g.150549900C>G NCBI36
NG_016190.1:g.19404G>C , LRG_1028:g.19404G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000368799.2:c.4086G>C MANE Select ENSP00000357789.1:p.Gln1362His
ENST00000368799.1:c.4086G>C ENSP00000357789.1:p.Gln1362His
NM_002016.1:c.4086G>C , LRG_1028t1:c.4086G>C NP_002007.1:p.Gln1362His
XM_011509329.1:c.4086G>C XP_011507631.1:p.Gln1362His
NM_002016.2:c.4086G>C MANE Select NP_002007.1:p.Gln1362His
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