Canonical Allele Identifier: CA394303642
Gene: GFER HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985867C>G , CM000678.2:g.1985867C>G GRCh38
NC_000016.9:g.2035868C>G , CM000678.1:g.2035868C>G GRCh37
NC_000016.8:g.1975869C>G NCBI36
NG_016288.1:g.6719C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.232C>G ENSP00000455885.1:p.Leu78Val
ENST00000248114.7:c.457C>G MANE Select ENSP00000248114.6:p.Leu153Val
ENST00000248114.6:c.457C>G ENSP00000248114.6:p.Leu153Val
ENST00000565658.1:n.614C>G
ENST00000567719.1:c.232C>G ENSP00000455885.1:p.Leu78Val
ENST00000569451.1:c.260C>G ENSP00000456432.1:p.Ala87Gly
NM_005262.2:c.457C>G NP_005253.3:p.Leu153Val
NM_005262.3:c.457C>G MANE Select NP_005253.3:p.Leu153Val