Canonical Allele Identifier: CA394303980
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 2168703
ClinVar RCV Id: RCV003082702
dbSNP Id: rs2083563791
MyVariant Identifiers: chr16:g.2035912A>G (hg19) chr16:g.1985911A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985911A>G , CM000678.2:g.1985911A>G GRCh38
NC_000016.9:g.2035912A>G , CM000678.1:g.2035912A>G GRCh37
NC_000016.8:g.1975913A>G NCBI36
NG_016288.1:g.6763A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.276A>G ENSP00000455885.1:p.Thr92=
ENST00000248114.7:c.501A>G MANE Select ENSP00000248114.6:p.Thr167=
ENST00000248114.6:c.501A>G ENSP00000248114.6:p.Thr167=
ENST00000565658.1:n.658A>G
ENST00000567719.1:c.276A>G ENSP00000455885.1:p.Thr92=
ENST00000569451.1:c.304A>G ENSP00000456432.1:p.Thr102Ala
NM_005262.2:c.501A>G NP_005253.3:p.Thr167=
NM_005262.3:c.501A>G MANE Select NP_005253.3:p.Thr167=
Search 100 bp 5'
Search 100 bp 3'