Canonical Allele Identifier: CA394304404
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985966-T-C
MyVariant Identifiers: chr16:g.2035967T>C (hg19) chr16:g.1985966T>C (hg38)
JSON-LD

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.331T>C ENSP00000455885.1:p.Phe111Leu
ENST00000248114.7:c.556T>C MANE Select ENSP00000248114.6:p.Phe186Leu
ENST00000248114.6:c.556T>C ENSP00000248114.6:p.Phe186Leu
ENST00000565658.1:n.713T>C
ENST00000567719.1:c.331T>C ENSP00000455885.1:p.Phe111Leu
ENST00000569451.1:c.*29T>C ENSP00000456432.1:n.*29T>C
NM_005262.2:c.556T>C NP_005253.3:p.Phe186Leu
NM_005262.3:c.556T>C MANE Select NP_005253.3:p.Phe186Leu
Search 100 bp 5'
Search 100 bp 3'