Canonical Allele Identifier: CA394304406
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035967T>G (hg19) chr16:g.1985966T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985966T>G , CM000678.2:g.1985966T>G GRCh38
NC_000016.9:g.2035967T>G , CM000678.1:g.2035967T>G GRCh37
NC_000016.8:g.1975968T>G NCBI36
NG_016288.1:g.6818T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.331T>G ENSP00000455885.1:p.Phe111Val
ENST00000248114.7:c.556T>G MANE Select ENSP00000248114.6:p.Phe186Val
ENST00000248114.6:c.556T>G ENSP00000248114.6:p.Phe186Val
ENST00000565658.1:n.713T>G
ENST00000567719.1:c.331T>G ENSP00000455885.1:p.Phe111Val
ENST00000569451.1:c.*29T>G ENSP00000456432.1:n.*29T>G
NM_005262.2:c.556T>G NP_005253.3:p.Phe186Val
NM_005262.3:c.556T>G MANE Select NP_005253.3:p.Phe186Val
Search 100 bp 5'
Search 100 bp 3'