Canonical Allele Identifier: CA394304121
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2035934A>C (hg19) chr16:g.1985933A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985933A>C , CM000678.2:g.1985933A>C GRCh38
NC_000016.9:g.2035934A>C , CM000678.1:g.2035934A>C GRCh37
NC_000016.8:g.1975935A>C NCBI36
NG_016288.1:g.6785A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.298A>C ENSP00000455885.1:p.Asn100His
ENST00000248114.7:c.523A>C MANE Select ENSP00000248114.6:p.Asn175His
ENST00000248114.6:c.523A>C ENSP00000248114.6:p.Asn175His
ENST00000565658.1:n.680A>C
ENST00000567719.1:c.298A>C ENSP00000455885.1:p.Asn100His
ENST00000569451.1:c.326A>C ENSP00000456432.1:p.Gln109Pro
NM_005262.2:c.523A>C NP_005253.3:p.Asn175His
NM_005262.3:c.523A>C MANE Select NP_005253.3:p.Asn175His
Search 100 bp 5'
Search 100 bp 3'