Canonical Allele Identifier: CA7826073
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs755147804
ExAC: 16:2035899 G / A
gnomAD v2: 16-2035899-G-A
gnomAD v3: 16-1985898-G-A
gnomAD v4: 16-1985898-G-A
MyVariant Identifiers: chr16:g.2035899G>A (hg19) chr16:g.1985898G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985898G>A , CM000678.2:g.1985898G>A GRCh38
NC_000016.9:g.2035899G>A , CM000678.1:g.2035899G>A GRCh37
NC_000016.8:g.1975900G>A NCBI36
NG_016288.1:g.6750G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.263G>A ENSP00000455885.1:p.Arg88Gln
ENST00000248114.7:c.488G>A MANE Select ENSP00000248114.6:p.Arg163Gln
ENST00000248114.6:c.488G>A ENSP00000248114.6:p.Arg163Gln
ENST00000565658.1:n.645G>A
ENST00000567719.1:c.263G>A ENSP00000455885.1:p.Arg88Gln
ENST00000569451.1:c.291G>A ENSP00000456432.1:p.Pro97=
NM_005262.2:c.488G>A NP_005253.3:p.Arg163Gln
NM_005262.3:c.488G>A MANE Select NP_005253.3:p.Arg163Gln
Search 100 bp 5'
Search 100 bp 3'