Canonical Allele Identifier: CA492950303
Gene: GFER HGNC NCBI

Linked Data

gnomAD v4: 16-1986004-C-G
MyVariant Identifiers: chr16:g.2036005C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986004C>G , CM000678.2:g.1986004C>G GRCh38
NC_000016.9:g.2036005C>G , CM000678.1:g.2036005C>G GRCh37
NC_000016.8:g.1976006C>G NCBI36
NG_016288.1:g.6856C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.369C>G ENSP00000455885.1:p.Gly123=
ENST00000248114.7:c.594C>G MANE Select ENSP00000248114.6:p.Gly198=
ENST00000248114.6:c.594C>G ENSP00000248114.6:p.Gly198=
ENST00000565658.1:n.751C>G
ENST00000567719.1:c.369C>G ENSP00000455885.1:p.Gly123=
ENST00000569451.1:c.*67C>G ENSP00000456432.1:n.*67C>G
NM_005262.2:c.594C>G NP_005253.3:p.Gly198=
NM_005262.3:c.594C>G MANE Select NP_005253.3:p.Gly198=
Search 100 bp 5'
Search 100 bp 3'