Canonical Allele Identifier: CA2201967761
Gene: GFER HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1985939G= , CM000678.2:g.1985939G= GRCh38
NC_000016.9:g.2035940G= , CM000678.1:g.2035940G= GRCh37
NC_000016.8:g.1975941G= NCBI36
NG_016288.1:g.6791G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000567719.2:c.304G= ENSP00000455885.1:p.Val102=
ENST00000248114.7:c.529G= MANE Select ENSP00000248114.6:p.Val177=
ENST00000248114.6:c.529G= ENSP00000248114.6:p.Val177=
ENST00000565658.1:n.686G=
ENST00000567719.1:c.304G= ENSP00000455885.1:p.Val102=
ENST00000569451.1:c.*2G= ENSP00000456432.1:n.*2G=
NM_005262.2:c.529G= NP_005253.3:p.Val177=
NM_005262.3:c.529G= MANE Select NP_005253.3:p.Val177=