Canonical Allele Identifier: CA394304685
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1986005-T-C
MyVariant Identifiers: chr16:g.2036006T>C (hg19) chr16:g.1986005T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986005T>C , CM000678.2:g.1986005T>C GRCh38
NC_000016.9:g.2036006T>C , CM000678.1:g.2036006T>C GRCh37
NC_000016.8:g.1976007T>C NCBI36
NG_016288.1:g.6857T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.370T>C ENSP00000455885.1:p.Trp124Arg
ENST00000248114.7:c.595T>C MANE Select ENSP00000248114.6:p.Trp199Arg
ENST00000248114.6:c.595T>C ENSP00000248114.6:p.Trp199Arg
ENST00000565658.1:n.752T>C
ENST00000567719.1:c.370T>C ENSP00000455885.1:p.Trp124Arg
ENST00000569451.1:c.*68T>C ENSP00000456432.1:n.*68T>C
NM_005262.2:c.595T>C NP_005253.3:p.Trp199Arg
NM_005262.3:c.595T>C MANE Select NP_005253.3:p.Trp199Arg
Search 100 bp 5'
Search 100 bp 3'