Canonical Allele Identifier: CA394303660

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2035871T>G (hg19) ; chr16:g.1985870T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985870T>G , CM000678.2:g.1985870T>G	GRCh38
NC_000016.9:g.2035871T>G , CM000678.1:g.2035871T>G	GRCh37
NC_000016.8:g.1975872T>G	NCBI36
NG_016288.1:g.6722T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.235T>G	ENSP00000455885.1:p.Cys79Gly
ENST00000248114.7:c.460T>G MANE Select	ENSP00000248114.6:p.Cys154Gly
ENST00000248114.6:c.460T>G	ENSP00000248114.6:p.Cys154Gly
ENST00000565658.1:n.617T>G
ENST00000567719.1:c.235T>G	ENSP00000455885.1:p.Cys79Gly
ENST00000569451.1:c.263T>G	ENSP00000456432.1:p.Val88Gly
NM_005262.2:c.460T>G	NP_005253.3:p.Cys154Gly
NM_005262.3:c.460T>G MANE Select	NP_005253.3:p.Cys154Gly