Canonical Allele Identifier: CA394304068

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2035928C>T (hg19) ; chr16:g.1985927C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985927C>T , CM000678.2:g.1985927C>T	GRCh38
NC_000016.9:g.2035928C>T , CM000678.1:g.2035928C>T	GRCh37
NC_000016.8:g.1975929C>T	NCBI36
NG_016288.1:g.6779C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.292C>T	ENSP00000455885.1:p.Leu98=
ENST00000248114.7:c.517C>T MANE Select	ENSP00000248114.6:p.Leu173=
ENST00000248114.6:c.517C>T	ENSP00000248114.6:p.Leu173=
ENST00000565658.1:n.674C>T
ENST00000567719.1:c.292C>T	ENSP00000455885.1:p.Leu98=
ENST00000569451.1:c.320C>T	ENSP00000456432.1:p.Pro107Leu
NM_005262.2:c.517C>T	NP_005253.3:p.Leu173=
NM_005262.3:c.517C>T MANE Select	NP_005253.3:p.Leu173=