Canonical Allele Identifier: CA492950321
Gene: GFER HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.2036017C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1986016C>G , CM000678.2:g.1986016C>G GRCh38
NC_000016.9:g.2036017C>G , CM000678.1:g.2036017C>G GRCh37
NC_000016.8:g.1976018C>G NCBI36
NG_016288.1:g.6868C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.381C>G ENSP00000455885.1:p.Gly127=
ENST00000248114.7:c.606C>G MANE Select ENSP00000248114.6:p.Gly202=
ENST00000248114.6:c.606C>G ENSP00000248114.6:p.Gly202=
ENST00000565658.1:n.763C>G
ENST00000567719.1:c.381C>G ENSP00000455885.1:p.Gly127=
ENST00000569451.1:c.*79C>G ENSP00000456432.1:n.*79C>G
NM_005262.2:c.606C>G NP_005253.3:p.Gly202=
NM_005262.3:c.606C>G MANE Select NP_005253.3:p.Gly202=