Canonical Allele Identifier: CA394304027
Gene: GFER HGNC NCBI

Linked Data

ClinVar Variation Id: 1974629
ClinVar RCV Id: RCV002765716
dbSNP Id: rs1464310134
MyVariant Identifiers: chr16:g.2035921G>C (hg19) chr16:g.1985920G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985920G>C , CM000678.2:g.1985920G>C GRCh38
NC_000016.9:g.2035921G>C , CM000678.1:g.2035921G>C GRCh37
NC_000016.8:g.1975922G>C NCBI36
NG_016288.1:g.6772G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.285G>C ENSP00000455885.1:p.Leu95=
ENST00000248114.7:c.510G>C MANE Select ENSP00000248114.6:p.Leu170=
ENST00000248114.6:c.510G>C ENSP00000248114.6:p.Leu170=
ENST00000565658.1:n.667G>C
ENST00000567719.1:c.285G>C ENSP00000455885.1:p.Leu95=
ENST00000569451.1:c.313G>C ENSP00000456432.1:p.Val105Leu
NM_005262.2:c.510G>C NP_005253.3:p.Leu170=
NM_005262.3:c.510G>C MANE Select NP_005253.3:p.Leu170=
Search 100 bp 5'
Search 100 bp 3'