Canonical Allele Identifier: CA394304039

Gene: GFER

Linked Data

• MyVariant Identifiers: chr16:g.2035924C>T (hg19) ; chr16:g.1985923C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1985923C>T , CM000678.2:g.1985923C>T	GRCh38
NC_000016.9:g.2035924C>T , CM000678.1:g.2035924C>T	GRCh37
NC_000016.8:g.1975925C>T	NCBI36
NG_016288.1:g.6775C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000567719.2:c.288C>T	ENSP00000455885.1:p.Cys96=
ENST00000248114.7:c.513C>T MANE Select	ENSP00000248114.6:p.Cys171=
ENST00000248114.6:c.513C>T	ENSP00000248114.6:p.Cys171=
ENST00000565658.1:n.670C>T
ENST00000567719.1:c.288C>T	ENSP00000455885.1:p.Cys96=
ENST00000569451.1:c.316C>T	ENSP00000456432.1:p.Pro106Ser
NM_005262.2:c.513C>T	NP_005253.3:p.Cys171=
NM_005262.3:c.513C>T MANE Select	NP_005253.3:p.Cys171=