Canonical Allele Identifier: CA492950182

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2035939A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985938A>G , CM000678.2:g.1985938A>G	GRCh38
NC_000016.9:g.2035939A>G , CM000678.1:g.2035939A>G	GRCh37
NC_000016.8:g.1975940A>G	NCBI36
NG_016288.1:g.6790A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.303A>G	ENSP00000455885.1:p.Glu101=
ENST00000248114.7:c.528A>G MANE Select	ENSP00000248114.6:p.Glu176=
ENST00000248114.6:c.528A>G	ENSP00000248114.6:p.Glu176=
ENST00000565658.1:n.685A>G
ENST00000567719.1:c.303A>G	ENSP00000455885.1:p.Glu101=
ENST00000569451.1:c.*1A>G	ENSP00000456432.1:n.*1A>G
NM_005262.2:c.528A>G	NP_005253.3:p.Glu176=
NM_005262.3:c.528A>G MANE Select	NP_005253.3:p.Glu176=