Canonical Allele Identifier: CA492950298
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1985998-C-G
MyVariant Identifiers: chr16:g.2035999C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985998C>G , CM000678.2:g.1985998C>G GRCh38
NC_000016.9:g.2035999C>G , CM000678.1:g.2035999C>G GRCh37
NC_000016.8:g.1976000C>G NCBI36
NG_016288.1:g.6850C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.363C>G ENSP00000455885.1:p.Arg121=
ENST00000248114.7:c.588C>G MANE Select ENSP00000248114.6:p.Arg196=
ENST00000248114.6:c.588C>G ENSP00000248114.6:p.Arg196=
ENST00000565658.1:n.745C>G
ENST00000567719.1:c.363C>G ENSP00000455885.1:p.Arg121=
ENST00000569451.1:c.*61C>G ENSP00000456432.1:n.*61C>G
NM_005262.2:c.588C>G NP_005253.3:p.Arg196=
NM_005262.3:c.588C>G MANE Select NP_005253.3:p.Arg196=
Search 100 bp 5'
Search 100 bp 3'