Canonical Allele Identifier: CA7826083
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 2502132
ClinVar RCV Id: RCV003228551
dbSNP Id: rs201112184
ExAC: 16:2035946 C / T
gnomAD v2: 16-2035946-C-T
gnomAD v3: 16-1985945-C-T
gnomAD v4: 16-1985945-C-T
MyVariant Identifiers: chr16:g.2035946C>T (hg19) chr16:g.1985945C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985945C>T , CM000678.2:g.1985945C>T GRCh38
NC_000016.9:g.2035946C>T , CM000678.1:g.2035946C>T GRCh37
NC_000016.8:g.1975947C>T NCBI36
NG_016288.1:g.6797C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.310C>T ENSP00000455885.1:p.Arg104Cys
ENST00000248114.7:c.535C>T MANE Select ENSP00000248114.6:p.Arg179Cys
ENST00000248114.6:c.535C>T ENSP00000248114.6:p.Arg179Cys
ENST00000565658.1:n.692C>T
ENST00000567719.1:c.310C>T ENSP00000455885.1:p.Arg104Cys
ENST00000569451.1:c.*8C>T ENSP00000456432.1:n.*8C>T
NM_005262.2:c.535C>T NP_005253.3:p.Arg179Cys
NM_005262.3:c.535C>T MANE Select NP_005253.3:p.Arg179Cys
Search 100 bp 5'
Search 100 bp 3'