Canonical Allele Identifier: CA394303651

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2035869T>G (hg19) ; chr16:g.1985868T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985868T>G , CM000678.2:g.1985868T>G	GRCh38
NC_000016.9:g.2035869T>G , CM000678.1:g.2035869T>G	GRCh37
NC_000016.8:g.1975870T>G	NCBI36
NG_016288.1:g.6720T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.233T>G	ENSP00000455885.1:p.Leu78Arg
ENST00000248114.7:c.458T>G MANE Select	ENSP00000248114.6:p.Leu153Arg
ENST00000248114.6:c.458T>G	ENSP00000248114.6:p.Leu153Arg
ENST00000565658.1:n.615T>G
ENST00000567719.1:c.233T>G	ENSP00000455885.1:p.Leu78Arg
ENST00000569451.1:c.261T>G	ENSP00000456432.1:p.Ala87=
NM_005262.2:c.458T>G	NP_005253.3:p.Leu153Arg
NM_005262.3:c.458T>G MANE Select	NP_005253.3:p.Leu153Arg