Canonical Allele Identifier: CA394304231
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs774893508

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985944C>G , CM000678.2:g.1985944C>G GRCh38
NC_000016.9:g.2035945C>G , CM000678.1:g.2035945C>G GRCh37
NC_000016.8:g.1975946C>G NCBI36
NG_016288.1:g.6796C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.309C>G ENSP00000455885.1:p.Asn103Lys
ENST00000248114.7:c.534C>G MANE Select ENSP00000248114.6:p.Asn178Lys
ENST00000248114.6:c.534C>G ENSP00000248114.6:p.Asn178Lys
ENST00000565658.1:n.691C>G
ENST00000567719.1:c.309C>G ENSP00000455885.1:p.Asn103Lys
ENST00000569451.1:c.*7C>G ENSP00000456432.1:n.*7C>G
NM_005262.2:c.534C>G NP_005253.3:p.Asn178Lys
NM_005262.3:c.534C>G MANE Select NP_005253.3:p.Asn178Lys