Canonical Allele Identifier: CA394303917
Gene: GFER HGNC NCBI

Linked Data

dbSNP Id: rs1181856698
gnomAD v2: 16-2035902-C-T
gnomAD v4: 16-1985901-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985901C>T , CM000678.2:g.1985901C>T GRCh38
NC_000016.9:g.2035902C>T , CM000678.1:g.2035902C>T GRCh37
NC_000016.8:g.1975903C>T NCBI36
NG_016288.1:g.6753C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.266C>T ENSP00000455885.1:p.Ala89Val
ENST00000248114.7:c.491C>T MANE Select ENSP00000248114.6:p.Ala164Val
ENST00000248114.6:c.491C>T ENSP00000248114.6:p.Ala164Val
ENST00000565658.1:n.648C>T
ENST00000567719.1:c.266C>T ENSP00000455885.1:p.Ala89Val
ENST00000569451.1:c.294C>T ENSP00000456432.1:p.Gly98=
NM_005262.2:c.491C>T NP_005253.3:p.Ala164Val
NM_005262.3:c.491C>T MANE Select NP_005253.3:p.Ala164Val